Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Multicentric femoral head ossification, Delayed femoral head ossification, Limited ... |
ORPHA:168621 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... |
ORPHA:486 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia... |
OMIM:610539 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:616050 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple... |
OMIM:612526 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, Failure to thrive |
OMIM:269920 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El... |
OMIM:615559 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi... |
OMIM:209950 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Osteo... |
OMIM:614727 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment, Radioulnar synostosis |
ORPHA:71289 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Low-set ears, Decreased body weight, Macrotia, Thrombocytopenia |
OMIM:613606 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... |
ORPHA:507 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Increased bone mineral density, F... |
OMIM:259720 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
OMIM:603553 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru... |
OMIM:620010 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Decreased nerve conduction velocity, Babinski sign, Acute myelomonocytic le... |
OMIM:159550 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly |
OMIM:618982 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... |
ORPHA:1667 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy... |
OMIM:612541 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... |
OMIM:229050 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Cryptorchidism, Sensorineural hearing impairment, Hyp... |
OMIM:617575 |
Galactokinase Deficiency |
|
Speech apraxia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestat... |
ORPHA:79237 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, EEG abnormality... |
OMIM:612126 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma |
OMIM:618840 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:66628 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis,... |
ORPHA:289916 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum... |
OMIM:277900 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An... |
OMIM:224120 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Ketotic h... |
ORPHA:79240 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Fail... |
ORPHA:79312 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ... |
OMIM:618048 |
Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia,... |
ORPHA:263501 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... |
ORPHA:432 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:179494 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Paraparesis, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Choreo... |
ORPHA:27 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive |
OMIM:269840 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated e... |
OMIM:617475 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone... |
ORPHA:848 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
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 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... |
OMIM:615285 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Immunodeficiency 43 |
|
Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni... |
OMIM:241600 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment |
ORPHA:79234 |
Propionic Acidemia |
|
Pancytopenia, Dystonia, Hypoglycemia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:606054 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Immunodeficiency 104 |
|
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia |
OMIM:608971 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
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 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
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 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased T cell count, Failure to thrive, Increased B cell count |
ORPHA:98813 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia |
OMIM:615010 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Decreased mitochondrial number, Gait disturbance, Difficulty walking |
ORPHA:352470 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, EEG abnorm... |
OMIM:617021 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Low-set e... |
OMIM:608104 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Decreased testicular size,... |
OMIM:601815 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia |
ORPHA:100024 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hyperbilirubin... |
ORPHA:79303 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529808 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529799 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Pancytopenia, Osteomyelitis, Facial palsy, Craniosynostosis, Thro... |
OMIM:259700 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Hyperhomocystinemia, ... |
OMIM:614857 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Spasticity, Failure to thrive, Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... |
ORPHA:822 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of neutrophils, Thrombocyto... |
ORPHA:229717 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Ataxia, Cryptorchidism, Hypogonadism, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Sensorineural hearing impairment, Radioulnar synostosis, Joint cont... |
OMIM:194350 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Ataxia, Premature ovarian insufficiency, Increased circulating gonadotropin level, ... |
ORPHA:243 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Limitation of movement at ankles, Decreased sensory ne... |
ORPHA:206594 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy, Loss of ambulatio... |
OMIM:619518 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion... |
ORPHA:90362 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ... |
OMIM:598500 |
Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Failure to thrive, Ataxia, ... |
ORPHA:14 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... |
OMIM:615513 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Limited elbow movement, Limited shoulder movemen... |
ORPHA:39812 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Hypercholesterolemia, Diabetes mellitus, Adipose tissue loss... |
ORPHA:528 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... |
ORPHA:158048 |
Classic Galactosemia |
|
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... |
ORPHA:79239 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Hypertonia, Myoclonus, Failure to thrive, Anemia |
OMIM:610090 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Oste... |
OMIM:606069 |
Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia |
OMIM:618805 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Joint laxity, Ataxia, Elevated circulating creatine kinase co... |
OMIM:615673 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Radial club hand, Thrombocytopenia, C... |
OMIM:617053 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytop... |
OMIM:615085 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abno... |
OMIM:212065 |
Rhabdoid Tumor |
|
Cerebral palsy, Hypercalcemia, Weight loss, Anemia, Hemiplegia, Thrombocytopenia |
ORPHA:69077 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Sensorineural h... |
ORPHA:540 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia... |
OMIM:617591 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Abnormality of the testis size, Bone cyst, Weight loss, Hyperbilirubinemia... |
ORPHA:400 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... |
ORPHA:470 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop... |
OMIM:618986 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... |
ORPHA:2298 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Hydrocele testis, Anemia, Radioulnar synostosis, Neutropenia, C... |
OMIM:616738 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia |
ORPHA:75563 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ... |
ORPHA:275555 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... |
OMIM:208920 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Sensorineural hearing impairment, Neutropen... |
ORPHA:47 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregati... |
OMIM:124900 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Abnormal mitochondrial morphology |
OMIM:300438 |
Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Arthritis, Abn... |
ORPHA:206572 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Seco... |
OMIM:613313 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Clumsiness |
ORPHA:488650 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Spastic dysarthria, Hypercholesterolemia, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Anisocytosis, Leukocytosis, Tetra... |
OMIM:618278 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... |
OMIM:604290 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Optic disc pallor, Facial palsy, Recurrent fract... |
OMIM:611490 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... |
ORPHA:330015 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F... |
OMIM:251000 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Lymphocytosis, Hearing impairment |
ORPHA:79087 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Alg12-Cdg |
|
Hyponatremia, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impairment, Abnorm... |
ORPHA:79324 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... |
OMIM:557000 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Atelis Syndrome 1 |
|
Anemia, Leukopenia, Hypertonia, Microtia, Thrombocytopenia |
OMIM:620184 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Maturity-onset diabete... |
OMIM:616222 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... |
ORPHA:101028 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Flexion contracture, Hypertonia, Camptodactyly, Failure to thrive |
OMIM:604273 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Congenital sensorineural hearing impairment, Sensorineur... |
ORPHA:73272 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperur... |
ORPHA:77296 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Low-set ears, Thrombocytopenia |
OMIM:618116 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... |
OMIM:619151 |
Babesiosis |
|
Hemolytic anemia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Low-set ears, Arthrogryposis multiplex ... |
OMIM:208085 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Sensorineural ... |
OMIM:611762 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thrive, Hypocholest... |
OMIM:607765 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Failure to thrive in infancy, Elevated circulat... |
OMIM:610377 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis, Hyperglycemia |
ORPHA:90065 |
Felty Syndrome |
|
Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Anemi... |
ORPHA:47612 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Th... |
ORPHA:3327 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P... |
ORPHA:494444 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Flexion contracture, Optic atrophy, Anemia, Leukopenia, Hypoalbuminemia, Bone marro... |
OMIM:617303 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive |
OMIM:211600 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo... |
OMIM:301078 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Spastic tetraparesis, Osteoporosis, Spastic tetraplegia, Spastic diplegia, Hepa... |
OMIM:619487 |
Cinca Syndrome |
|
Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ... |
ORPHA:1451 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis... |
ORPHA:79259 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Abnormal sensory nerve conduction vel... |
ORPHA:276435 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... |
OMIM:601457 |
Alg8-Cdg |
|
Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Ataxia, Optic at... |
ORPHA:79325 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thymus, Intent... |
OMIM:208900 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive megaloblastic anemia, Crypto... |
OMIM:249270 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Failure to thrive in infancy, Anemia, Hearing impairment |
ORPHA:858 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology, Spastic gait |
ORPHA:99013 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... |
OMIM:611881 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Dystonia, Spasticity, Thrombocytopenia |
OMIM:610333 |
Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensorineural hearing impa... |
OMIM:617872 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil... |
OMIM:300972 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto... |
ORPHA:3261 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Bone marrow hypocellularity... |
OMIM:616435 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased body weight, Spastic paraparesis, Thromb... |
OMIM:231000 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... |
OMIM:613179 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Sengers Syndrome |
|
Osteopenia, Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy... |
OMIM:169400 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Incoordination, Small for gestational age, Megaloblastic an... |
OMIM:277380 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... |
ORPHA:37042 |
Griscelli Syndrome |
|
Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Bone marrow hypocellularity, Spasti... |
ORPHA:381 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Poor fine motor coordination, Hypercholesterolemia... |
ORPHA:254531 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia |
ORPHA:37748 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Ataxia, Tremor, Type II diabetes mellitus, Spasticity, Failure to... |
ORPHA:100 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Paralysis, Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytop... |
ORPHA:83601 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Aicardi-Goutieres Syndrome 5 |
|
Spasticity, Flexion contracture, Thrombocytopenia |
OMIM:612952 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Thr... |
OMIM:254900 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le... |
ORPHA:3226 |
Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormality of extrapyramidal motor fun... |
OMIM:616299 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,... |
ORPHA:621 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Increased circulating antibo... |
ORPHA:169160 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertoni... |
OMIM:617710 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Ataxia, Neonatal hypoglycemia, Tremor, Flexion contracture, Opisthotonus, Choreoathetos... |
OMIM:616271 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Craniosynostosis, ... |
OMIM:301056 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Thrombo... |
ORPHA:49827 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H... |
ORPHA:811 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Inguinal hernia, Small for gestational ... |
OMIM:613658 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Cryptorchidism, Sensorineural hearing impairment, Limitation of joint mobility, Hypertoni... |
ORPHA:1192 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Absent brainstem auditory responses, Foot joint contracture, Scarring, Ata... |
ORPHA:90321 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Abscess, Elevated circulating creatine kinase concentration, Elevated c... |
ORPHA:36234 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto... |
OMIM:616959 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... |
ORPHA:79124 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Ca... |
OMIM:248370 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Sensorineural hearing impairment, EEG abnormality, Hypertonia, Spasticity, Failure to thrive, Thr... |
OMIM:616577 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Azoosp... |
OMIM:602390 |
Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Clonus, Hiatus hernia, Babinski sign, Hyperbilirubinemia, Hernia, Hearing impairment |
ORPHA:101009 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Bachmann-Bupp Syndrome |
|
Lower limb spasticity, Hypoglycemia, Large for gestational age, Cryptorchidism, Sensorineural hea... |
OMIM:619075 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytos... |
OMIM:608885 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni... |
OMIM:251100 |
Progressive Multifocal Leukoencephalopathy |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Decreased proportion of CD8-positiv... |
ORPHA:217260 |
Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count |
OMIM:612260 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Leukocytosis, Elevated circulating C-reactive protein concentration, Hearing impairment |
OMIM:120100 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Abnormal mitochondrial morphology |
ORPHA:275872 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failu... |
OMIM:251110 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... |
OMIM:227810 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... |
ORPHA:48818 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess |
ORPHA:3392 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Clonus, Spastic tetraparesis, Sensorineural hearing impairment, Babinski sign,... |
ORPHA:423479 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Hemiparesis, Decr... |
ORPHA:1830 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Sneddon Syndrome |
|
Facial palsy, Tremor, Atrophic scars, Hemiplegia, Lymphopenia |
OMIM:182410 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Sensorineural hearing impairment, Slurred speech, Myoclonus, Thrombocytopenia |
OMIM:274240 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... |
OMIM:619510 |
Cortisone Reductase Deficiency 1 |
|
Acne, Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Hearing impairment, T... |
OMIM:617052 |
Muckle-Wells Syndrome |
|
Progressive sensorineural hearing impairment, Leukocytosis, Elevated circulating C-reactive prote... |
OMIM:191900 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Optic atrophy, Hyperbilirubinemia, Failure to thrive, Polycy... |
OMIM:606812 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Abnormal circulating selenium concentration, Decreased serum iron, Flexion con... |
ORPHA:89842 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, O... |
OMIM:222700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis |
OMIM:152700 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocy... |
ORPHA:520 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Camptodactyly |
OMIM:619751 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Splenomegaly, Increased circul... |
ORPHA:465508 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Congenital Rubella Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Spastic diplegia, Anemia, Type I diabetes mellitu... |
ORPHA:290 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T... |
OMIM:616267 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N... |
OMIM:304790 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hear... |
OMIM:222300 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Premature ovarian insufficiency, Lack of facial subcutan... |
ORPHA:2959 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Hemiparesis, Impotence, Thrombocytopenia |
OMIM:615750 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Caroli Syndrome |
|
Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir... |
ORPHA:480520 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Cryptorchidism, Obesity, Poor fi... |
ORPHA:96184 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure to thrive |
ORPHA:99852 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... |
ORPHA:210136 |
Hijazi-Reis Syndrome |
|
Ankle clonus, Lower limb spasticity, Hyperbilirubinemia |
OMIM:301094 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, EEG abnormality, Myoclonus, Elevated hepatic iron concentration, Thrombocytopenia, Hearin... |
OMIM:614946 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Ataxia, Gait ataxia, Ambiguous genitalia, Failure to thrive, Clitor... |
ORPHA:543470 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Failure to thrive,... |
OMIM:300400 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... |
ORPHA:77259 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopenia, ... |
OMIM:242900 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight loss, Anemia, Clu... |
ORPHA:905 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Stiff neck, Facial palsy, Elevated circulating C-reactive protein... |
ORPHA:297 |
Laron Syndrome |
|
Hypercholesterolemia, Osteoarthritis, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Decreased lymphocyte proliferation... |
OMIM:606367 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Fa... |
OMIM:614520 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Low-set ears, Failure to thrive |
ORPHA:79320 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Macrotia, Hyperhomocysti... |
OMIM:277400 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Tremor, Sensorineural hearing impairment, Flexio... |
ORPHA:2590 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Increased mitochondrial number, Decreased activity of mitochondrial complex I, Dysmetria |
OMIM:615578 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Posteriorly rotated ears, Cryptorchidism, Anemia, Microt... |
ORPHA:163979 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma, Intention tremor |
OMIM:133190 |
Stt3B-Cdg |
|
Cryptorchidism, Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Cryptorchidism, Osteoporosis, Leukopenia, Bone marrow hypo... |
OMIM:613990 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Hypergonadotropic hypogonadism |
ORPHA:352447 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion... |
ORPHA:85212 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P... |
OMIM:260400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Increased body weight, EEG abnormality, Hypercholesterolemia, Hearing impai... |
OMIM:182290 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter |
OMIM:617577 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Conductive hearing impairment... |
ORPHA:443811 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... |
ORPHA:2686 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ... |
OMIM:613839 |
Liver Disease, Severe Congenital |
|
Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Joint... |
OMIM:619991 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Spastic paraplegia, Hepatosp... |
ORPHA:168577 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... |
ORPHA:99901 |
Immunodeficiency 22 |
|
Abscess, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to th... |
OMIM:615758 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Vexas Syndrome |
|
Macrocytic anemia, Chondritis of pinna, Elevated circulating C-reactive protein concentration, Se... |
OMIM:301054 |
Caroli Disease |
|
Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal c... |
ORPHA:53035 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple... |
OMIM:612840 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevated circulating follic... |
OMIM:619938 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co... |
OMIM:235200 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia, Low-set ears, Abnormal na... |
OMIM:615966 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Sensorineural hearing impairment, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Myh9-Related Disease |
|
Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive |
OMIM:601847 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Impaired T cell function, Tremor, Hypogonadism, Lethargy, Decreased serum testosterone co... |
OMIM:201100 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... |
ORPHA:85443 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Tremor, Sp... |
OMIM:608799 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Flexion contracture, Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Hypo... |
ORPHA:505248 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Decrea... |
OMIM:214500 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Snakebite Envenomation |
|
Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia |
ORPHA:449285 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... |
OMIM:617237 |
Netherton Syndrome |
|
Failure to thrive, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating Ig... |
OMIM:256500 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone marrow hyp... |
ORPHA:508542 |
Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Umbilical herni... |
ORPHA:87876 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Premature ovarian insufficiency, Decreased ci... |
ORPHA:199299 |
Reynolds Syndrome |
|
Calcinosis, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia |
OMIM:613471 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Optic atrophy, En... |
OMIM:614576 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Microcytic anemia, Cryptorchidism, Flexion contracture, Aplasi... |
ORPHA:98791 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Optic atrophy, Hyperammonemia, Neutropenia, Spasticity, ... |
OMIM:618253 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia, Hearing impairment |
OMIM:618349 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Sensorineural hearing impairment, Umbilical her... |
ORPHA:95716 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... |
ORPHA:77297 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... |
OMIM:613989 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Hype... |
OMIM:614886 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Sensorineur... |
OMIM:617093 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Normo... |
OMIM:618775 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Cryptorchidism, Sensorine... |
OMIM:614866 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
Degcags Syndrome |
|
Osteopenia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, Congenital hypoplastic anem... |
OMIM:619488 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Persistence of hemoglobin F, Increased mean corpusc... |
OMIM:300946 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Keratoconjunctivitis sicca, Hypogonadism, Erythroderma, Decreased circ... |
OMIM:601675 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:151660 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia, Thrombocytopenia |
OMIM:616638 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... |
OMIM:301074 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractures, Conductive... |
ORPHA:2785 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Bone marrow hypocellularity, Failure t... |
ORPHA:3322 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abscess, Hypoglycemia, Leukocytosis, Abnormal blood i... |
ORPHA:810 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration,... |
OMIM:607426 |
Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Splenomegaly, L... |
ORPHA:90051 |
Immunodeficiency 54 |
|
Splenomegaly, Failure to thrive, Reduced natural killer cell count |
OMIM:609981 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Progressive hearing impairment, Lymphocytosi... |
ORPHA:514 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Clonus, Protruding ear, Hyponatremia, Low-set, posteriorly rotated ears, Abnormal ... |
ORPHA:534 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto... |
OMIM:227650 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Tremor, Osteoporosis, Abnormal pyramidal sign, Optic atrophy, Increased susce... |
OMIM:612199 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Recurrent sinusitis, Chron... |
OMIM:612444 |
Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive... |
ORPHA:79396 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Hiatus hernia, Sensorineural hearing impairment, Spastic paraplegi... |
OMIM:609727 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhythmia, EEG abnormal... |
ORPHA:457351 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Hyperammonemia, EEG abnormality, Hyperuricemia, Myoclonus, Spasticity, Anemia |
OMIM:246450 |
Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Type II di... |
OMIM:606593 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment |
OMIM:619981 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis... |
ORPHA:1304 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Ataxia, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Weight loss, ... |
ORPHA:20 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Posteriorly rotated ears, Elevated circulating creatine kinase concentra... |
OMIM:608836 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing imp... |
OMIM:125250 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive |
ORPHA:79394 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Ichthyosis With Confetti |
|
Pruritus, Decreased body weight, Hypoplastic nipples, Erythroderma |
OMIM:609165 |
Müllerian Aplasia And Hyperandrogenism |
|
Acne, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, ... |
ORPHA:247768 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Hypogly... |
ORPHA:3008 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... |
OMIM:619752 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Ataxia, Recurrent fractures, Elevated c... |
ORPHA:355 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Posteriorly rotated ears, Cryptorchidism, Giant platele... |
OMIM:611209 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Pediatric-Onset Graves Disease |
|
Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hyp... |
ORPHA:525731 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Joint hype... |
ORPHA:2479 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenor... |
OMIM:157640 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Gait disturbance, Oromandibula... |
ORPHA:412217 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea... |
ORPHA:160 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
Sézary Syndrome |
|
Pruritus, Abnormal immunoglobulin level, Tremor, Erythroderma |
ORPHA:3162 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:319213 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Braddock-Carey Syndrome 1 |
|
Posteriorly rotated ears, Spastic diplegia, Camptodactyly, Enamel hypoplasia, Macrotia, Thrombocy... |
OMIM:619980 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Flexion ... |
OMIM:227645 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin... |
ORPHA:52368 |
Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Palmoplantar hyperhidrosis, Erythroderma |
OMIM:270300 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Obesity, EEG abnormality, Co... |
ORPHA:819 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti... |
ORPHA:139402 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Extrapyramidal dy... |
ORPHA:134 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo... |
OMIM:600901 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Splenomegaly, B... |
ORPHA:309854 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Ataxia, Hypoglycemia, Progressive hearing... |
OMIM:616113 |
Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Megaloblastic anemia, Optic atro... |
ORPHA:79282 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Gait ataxia, Keratoconjunctivitis si... |
ORPHA:33364 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan... |
OMIM:277460 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Abnormality of the peripheral nervous system, Leukocytosis, Hype... |
ORPHA:542643 |
Omenn Syndrome |
|
Pneumonia, Pruritus, Thyroiditis, Erythroderma, Failure to thrive, Hypothyroidism |
ORPHA:39041 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Neuhauser Syndrome |
|
Osteopenia, Ataxia, Poor coordination, Cupped ear, Large fleshy ears, Hypercholesterolemia |
OMIM:249310 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Cupped ear, Limb ataxia, Persistence of hemoglobin F, Low-set ears, Truncal ataxia, Overfolded he... |
OMIM:617101 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hypoglycemic seizures, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Low-set ears, Glycosuria, Arthrogryposis multiplex congenita, Fail... |
OMIM:613404 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Clumsi... |
ORPHA:90674 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... |
OMIM:243700 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p... |
ORPHA:331235 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... |
OMIM:617091 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus |
OMIM:619685 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Low-set ears |
OMIM:242860 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Low-set ears, Dystonia, Umbilical hernia, Spasticity, Failure to thrive, Thrombocyt... |
OMIM:251290 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... |
ORPHA:276 |
Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Radioulnar synostosis, Synostosis of carpal bones, Thrombocytopeni... |
ORPHA:2307 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Decreased circulating antibody level |
OMIM:618165 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia, Hypoalbuminemia, Low-set ears, Subcutaneous lipoma |
ORPHA:79076 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex... |
OMIM:193700 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
Ogden Syndrome |
|
Inguinal hernia, Torticollis, Maternal diabetes, Cryptorchidism, Protruding ear, Hydrocele testis... |
OMIM:300855 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Farber Disease |
|
Paraparesis, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Myoclonus,... |
ORPHA:333 |
Transaldolase Deficiency |
|
Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Low-set ears, ... |
OMIM:606003 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Anemia, Leukopenia, Microtia, Bone marrow hypocellularity, Conductive hearing imp... |
OMIM:603467 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:36238 |
Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Mild hearing impairment, Hyperbili... |
OMIM:301068 |
Barth Syndrome |
|
Failure to thrive, Gait disturbance, Abnormal mitochondrial morphology |
OMIM:302060 |
Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Cryptorchidism, Neutropenia, Macrotia, Neonatal hyperbilir... |
ORPHA:163956 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Posteriorly rotated ears, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh... |
ORPHA:171 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Chronic otitis media, Male infertility, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Adams-Oliver Syndrome |
|
Hemiparesis, Leukopenia, EEG abnormality, Hypertonia, Failure to thrive, Thrombocytopenia |
ORPHA:974 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Poor coordination, Optic ... |
OMIM:610965 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Ataxia, Optic nerve hypoplasia, Abnormal T cell subset distribution, Protruding ear, ... |
ORPHA:221139 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... |
OMIM:612561 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma, Seborrheic dermatitis |
ORPHA:276280 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
Zika Virus Disease |
|
Arthritis, Transient hearing impairment, Abnormal optic disc morphology, Thrombocytopenia |
ORPHA:448237 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Overweight, Obesity, Hypercholesterolemia |
ORPHA:69663 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eczema, Recurrent pneumonia, Decreased circulating antibody level,... |
ORPHA:353298 |
Autoimmune Hepatitis |
|
Splenomegaly, Arthritis, Increased total bilirubin |
ORPHA:2137 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Ataxia, Splenomegaly... |
ORPHA:699 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Hypoglycem... |
OMIM:619055 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cells, Hypereosi... |
ORPHA:508533 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Low-set ears, L... |
ORPHA:572798 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Menorrhagia, Thrombocytopenia |
OMIM:277480 |
Lissencephaly Due To Lis1 Mutation |
|
EEG with changes in voltage, Tetraplegia, Opisthotonus, Hypsarrhythmia, Progressive spastic quadr... |
ORPHA:95232 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Stiff neck, Tremor, Opisthotonus, Choreoathetosis, Hyp... |
ORPHA:79139 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Hypospadias, Patent ductus arteriosus, Unsteady gait, Decreased act... |
ORPHA:17 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Recurrent pneumonia, Abnormal axonemal organization o... |
OMIM:613807 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Limb joint contracture, Elevated circulating creatine kinase concentration, Pa... |
OMIM:617013 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... |
OMIM:242150 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Neutropenia, Low-set ears, Steatorrhea, Failure to thrive, Thrombocytopenia |
OMIM:617941 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Ataxia, Erythroderma |
OMIM:609180 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesi... |
OMIM:300055 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffic... |
ORPHA:85138 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Conductive hearing impairment, Abnor... |
ORPHA:244 |
Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:170100 |
Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Glucose intolerance, Decreased a... |
OMIM:606721 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:256040 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Ataxia, Abnormal auditory evoked ... |
OMIM:133540 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Cryptorchidism, A... |
OMIM:620005 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... |
ORPHA:320401 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal... |
OMIM:216400 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Mitochondrial hypertrophy |
OMIM:602541 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thr... |
ORPHA:77293 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hearing impairment |
OMIM:243300 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:308230 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia |
ORPHA:69665 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Spastic diplegia, T lymphocytopenia, Sclerosis of skull base, Progre... |
OMIM:607944 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocytopenia |
OMIM:230800 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Arthritis, Mitochondrial swelling |
ORPHA:397744 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Increa... |
OMIM:615846 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Hypertonia, Thrombocytopenia |
OMIM:253270 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Elevated circulating C-reactive protein concentration, Elevated c... |
ORPHA:91500 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha... |
OMIM:614074 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Sensorineural... |
OMIM:605432 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Weight loss, Anemia,... |
ORPHA:50918 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... |
OMIM:616881 |
Transketolase Deficiency |
|
Seborrheic dermatitis, Patent ductus arteriosus, Secondary amenorrhea, Uveitis, Conjunctivitis, T... |
ORPHA:488618 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Ataxia, Postural tremor, Splenomegaly, Flexion contracture, Babinski sign... |
OMIM:301072 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal ... |
ORPHA:567983 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Diabetes mellitus, Scarring, Abnormal erythrocyte e... |
ORPHA:101330 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:269700 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Microtia, Low-set ears, Decreased body we... |
OMIM:608013 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Inguinal hernia, Thrombocytopenia |
ORPHA:96181 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Cryptorchidism, Exaggerated startle response, Patent ductus arteriosus |
OMIM:620327 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, ... |
OMIM:618329 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Cushing Disease |
|
Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso... |
ORPHA:96253 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Protruding ear, Hypertonia, Decreased body weight, Intention tremor, Joint laxity, Ataxia... |
OMIM:619475 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, Hypocholesterolemia, Thrombocy... |
ORPHA:31150 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hem... |
ORPHA:544482 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia |
OMIM:619769 |
Isolated Biliary Atresia |
|
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma, Severe failu... |
ORPHA:30391 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocy... |
ORPHA:464343 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Ataxia, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism... |
OMIM:616737 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Ovarian Fibroma |
|
Gonadal calcification, Peritonitis, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia |
ORPHA:169105 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
Noonan Syndrome 4 |
|
Posteriorly rotated ears, Large for gestational age, Cryptorchidism, Low-set ears, Thickened heli... |
OMIM:610733 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Failure to thrive... |
OMIM:615895 |
Gaucher Disease, Type Ii |
|
Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Failure to thrive, Th... |
OMIM:230900 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Inguinal hernia, Craniosynostosis, Splenomegaly, Hyperbilirubinemia, Polysplenia, L... |
OMIM:613610 |
Lamellar Ichthyosis |
|
Chronic otitis media, Pruritus, Erythroderma |
ORPHA:313 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... |
ORPHA:169090 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic de... |
ORPHA:83617 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Recon Progeroid Syndrome |
|
Attached earlobe, Joint laxity, Anemia, Microtia, Thrombocytopenia |
OMIM:620370 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, O... |
ORPHA:95409 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem... |
ORPHA:845 |
Lesch-Nyhan Syndrome |
|
Opisthotonus, Choreoathetosis, Dystonia, Podagra, Testicular atrophy |
OMIM:300322 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating creatinine concen... |
ORPHA:230 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, Sensorineural hearin... |
ORPHA:847 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, T lymphocytopenia, B lymphocytopeni... |
OMIM:251260 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
Dyskeratosis Congenita |
|
Diabetes mellitus, Recurrent fractures, Abnormality of neutrophils, Hearing impairment, Thrombocy... |
ORPHA:1775 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia, Anemia |
OMIM:618182 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... |
OMIM:240500 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo... |
OMIM:227646 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... |
ORPHA:206448 |
Glycogen Storage Disease Ib |
|
Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia, Neutr... |
OMIM:232220 |
Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Acne, Hypospadias, Impaired T cell function, Seborrheic derm... |
ORPHA:567 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Protruding ear, Increased mean corpuscular volume, Thromb... |
ORPHA:261250 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Ataxia, Splenomegaly, Osteolysis, Increased suscept... |
ORPHA:77261 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Abnormality of extrapyramidal motor function, Dystonia, Spasticity, Thrombocytopenia |
OMIM:225750 |
Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypoglycemia, Neutropenia, Joint contracture, Failure to thrive |
OMIM:618005 |
Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Microtia, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Gout, ... |
ORPHA:412 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Conjunctivitis, Lethargy |
OMIM:253260 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Syndromic Diarrhea |
|
Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla... |
ORPHA:84064 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Obesity, Protruding ear, Anemia, Low-set ears, Thrombocytopenia |
OMIM:620072 |
Galloway-Mowat Syndrome 1 |
|
Dystonia, Small for gestational age, Ataxia, Hiatus hernia, Macrotia, Optic atrophy, Spastic tetr... |
OMIM:251300 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Aplastic anemia, Hypogonadism, Low-set ears, Overfolded helix, Th... |
OMIM:300514 |
Bathing Suit Ichthyosis |
|
Hypohidrosis, Erythroderma |
ORPHA:100976 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Anemia, Microtia, Low-set ears, Camptodactyly, Thrombocytopenia |
ORPHA:261323 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulat... |
OMIM:309000 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Digeorge Syndrome |
|
Acne, Parathyroid agenesis, Impaired T cell function, Seborrheic dermatitis, Decreased circulatin... |
OMIM:188400 |
Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:619484 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Inguinal hernia, Decreased body weight |
ORPHA:51890 |
Vici Syndrome |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Sensorineural hearing impa... |
OMIM:242840 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Sensorineural hearing impairment, Hypoalbuminemia, Low-set ears, Camptodactyly, C... |
OMIM:235510 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemi... |
ORPHA:263455 |
Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Orthost... |
ORPHA:91355 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal c... |
ORPHA:186 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Tru... |
OMIM:209900 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
Lathosterolosis |
|
Anisopoikilocytosis, Abnormal platelet morphology, Myoclonus, Failure to thrive, Thrombocytopenia... |
ORPHA:46059 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614935 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... |
OMIM:619260 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive, Opisthotonus, Seborrheic dermatitis |
OMIM:210210 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal pyramidal sign, Abnormal motor evoked potentials, Ataxia, Parkinsonism, Oste... |
ORPHA:909 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:79456 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... |
ORPHA:3260 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Prostatitis, Anemia, Hearing... |
OMIM:300755 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Increased circulating thyrogl... |
ORPHA:90673 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Osteomyelitis, Rectal abscess, Elevated circulating C-reactive protein concentration |
OMIM:116920 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating f... |
OMIM:619534 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Joint hypermobility, Hypogl... |
OMIM:619418 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve ... |
ORPHA:206436 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Glucose intolerance, Hypertonia, Glycosuria, Spas... |
OMIM:616539 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Harlequin Ichthyosis |
|
Erythroderma |
ORPHA:457 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, External ear malformation, Thr... |
ORPHA:84 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Hyperbilirubinemia |
ORPHA:562639 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Extrapyramidal muscular rigidity, Dystonia, Neonatal al... |
ORPHA:51 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Cryptorchidism, Osteoporosis, Optic atrophy, Anemia... |
OMIM:305000 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Anemia |
ORPHA:36426 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Cryptorchidism, EEG abnormality, Decreased body weight, Throm... |
OMIM:619005 |
Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of neutrophils, Craniosynostosis, Cryptorchidism, ... |
ORPHA:235 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Atelis Syndrome 2 |
|
Hyperinsulinemia, Dysmetria, Protruding ear, Anemia, Low-set ears, Thrombocytopenia |
OMIM:620185 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Abnormal pinna morphology, Optic nerve hy... |
OMIM:609069 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk... |
OMIM:249100 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Hypoalbuminemia, Low-set ears, Camptodactyly, Spasticity, Failure to thrive |
OMIM:617729 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Priapism, Increased red cell si... |
OMIM:603903 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Optic disc coloboma, Severe sensor... |
OMIM:620186 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Reduced alpha/beta sy... |
OMIM:301040 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypohidrosis, Erythroderma |
OMIM:615023 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:608594 |
Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Primary amenorrhea, Dysmetria... |
OMIM:617675 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic dermatitis, Hy... |
ORPHA:2796 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Erythroderma |
OMIM:617425 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop... |
ORPHA:667 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials |
OMIM:617523 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Scarring, Hypercalcemia, Facial palsy, Thrombocytopenia, Increase... |
ORPHA:797 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Periodic pa... |
OMIM:276700 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:158330 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Optic disc pallor, Tre... |
OMIM:615512 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Neonatal hypoglycemia, Cryptorchidism, EEG abnormality, Low-s... |
OMIM:619004 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cerebral palsy, Bilateral sensorineural hearing impairment, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:618948 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Tremor, Abnormality of the spleen, Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... |
ORPHA:244242 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Failure to thrive, Eczema, Seborrheic dermatitis, Obesity, Abnormality of the p... |
ORPHA:369950 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Posteriorly rotated ears, Splenomegaly, Cryptorchidism, Epiphyseal stippli... |
OMIM:270400 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Erythroderma |
OMIM:302960 |
Urachal Cyst |
|
Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration |
ORPHA:488 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Hypohidrosis, Erythroderma |
OMIM:612281 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocy... |
ORPHA:32960 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Hyperhidrosis, Falls, Difficulty walking, Hypoth... |
ORPHA:3198 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Chorea, Leukopenia, Arthritis, Thrombocytopenia |
ORPHA:536 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Fused cervical vertebrae, Sensorineural hearing impairment, Th... |
ORPHA:3320 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Cupped ear, T lymphocytopenia, Contracture of the proximal interphalangeal... |
OMIM:618223 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... |
ORPHA:786 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Low-set ears, ... |
OMIM:618183 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Abnormality of the peripheral nervous system, Chorea, Leukopenia, Normochromic... |
ORPHA:289390 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Hypoplasia of the ovary, Decreased testicular size, Abdominal obesity |
OMIM:619321 |
Jacobsen Syndrome |
|
Cryptorchidism, Flexion contracture, Optic atrophy, Low-set ears, Spasticity, Failure to thrive, ... |
OMIM:147791 |
Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Hypsarrhythmia, Hypochromic anemia, Thrombocytosis, Spasticity, F... |
OMIM:618213 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Weight loss, Anemia, Neutropenia |
ORPHA:537 |
Monosomy 22 |
|
Hyperhidrosis, Micropenis, Aplasia of the thymus, Seborrheic dermatitis |
ORPHA:96123 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Abnormal incisura morphology, Cr... |
OMIM:122470 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hypohidrosis, Hyperhidrosis, Impotence |
OMIM:268800 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic ... |
ORPHA:2072 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Anemia, Hemiparesis, Decerebrate rigidity, Thrombocytopenia |
ORPHA:319251 |
Q Fever |
|
Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Granuloma, Thrombocytopenia |
ORPHA:781 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concentration, Orchi... |
ORPHA:99827 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Patent ductus arteriosus, Hyperhidrosis, Arthritis, Eczematoid dermatitis |
OMIM:259100 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida, Seborrheic dermatitis, Pancreatic cysts, Patent ductus arteriosus, Decreased circul... |
OMIM:274000 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Seborrheic dermatitis |
OMIM:121270 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Low-set ears, Type I diab... |
OMIM:619525 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
Dpagt1-Cdg |
|
EEG with generalized slow activity, Lipodystrophy, Ataxia, Tremor, Flexion contracture, Osteoporo... |
ORPHA:86309 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F... |
OMIM:210710 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Hyperhidrosis, Choreoa... |
OMIM:608643 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa... |
OMIM:229600 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent skin infections, Eczema, Hypospadias, Keratitis, Cryptorchidism, Hypohidrosis, Erythrod... |
OMIM:308205 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadi... |
ORPHA:79318 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Hypercholesterolemia, Bilateral cryptorchidism, Obesity, Male hypogonadism |
OMIM:619471 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Pruritus, Or... |
ORPHA:556 |
Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, External ear malformation, Cryptorchidism, Kn... |
ORPHA:3103 |
Alg9-Cdg |
|
Torticollis, Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Ataxia, Abnormal d... |
ORPHA:666 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Sensorineural hearing impairment, Hypertonia, Neutropenia, Failure to t... |
OMIM:617248 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Micropenis, Large for gestational age, Seborrheic dermatitis |
OMIM:300868 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size |
OMIM:610644 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... |
OMIM:612953 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Mixed hearing impairment, Conjugated hyperbilirubinemia, Cr... |
OMIM:620305 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:881 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Chronic ... |
OMIM:244400 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)... |
ORPHA:401973 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Macrotia, Thrombocytopenia |
ORPHA:647 |
Cogan Syndrome |
|
Leukocytosis, Sensorineural hearing impairment, Thrombocytosis, Tinnitus, Anemia |
ORPHA:1467 |
Ameloonychohypohidrotic Syndrome |
|
Hypohidrosis, Seborrheic dermatitis |
OMIM:104570 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Flexion contr... |
ORPHA:487796 |
Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia |
OMIM:232240 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Hypercholesterolemia, Insulin resistance, Hype... |
ORPHA:273 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Diabetes mellitus,... |
ORPHA:2237 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Menorrhagia, Imp... |
ORPHA:274 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration, El... |
OMIM:606002 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Inability to walk, Unsteady gait, Abnormality of the Leydig cells, T... |
ORPHA:3063 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Ri... |
OMIM:219800 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso... |
ORPHA:99889 |
Listeriosis |
|
Brain abscess, Liver abscess, Ataxia, Abscess, Stiff neck, Osteomyelitis, Tremor, Abnormal cellul... |
ORPHA:533 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Hypospadias, Allergic rhinitis, Impaired T cell function, Small ... |
OMIM:176690 |
Alport Syndrome 1, X-Linked |
|
Sensorineural hearing impairment, Thrombocytopenia |
OMIM:301050 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... |
OMIM:234200 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Trisomy 10P |
|
Poor motor coordination, Small for gestational age, Abnormal auditory evoked potentials, Posterio... |
ORPHA:171929 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Hyperhidrosis, Acne, Seborrheic dermatitis |
OMIM:167100 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Hyperhidrosis |
OMIM:609541 |
Acute Liver Failure |
|
Incoordination, Ataxia, Hypoglycemia, Slurred speech, Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses |
OMIM:208500 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma... |
OMIM:209920 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia |
ORPHA:75565 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Bone-marrow foam cells, ... |
ORPHA:646 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormal... |
ORPHA:91347 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Absent specific antibody response, Inflammatory abnormality of the sk... |
OMIM:102700 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... |
ORPHA:79102 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentrat... |
OMIM:243800 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Chronic sinusitis, Male infertility |
OMIM:619607 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking, Hyperhidrosis |
ORPHA:320406 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Umbilical hernia, Impaired T cell function |
OMIM:192430 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Annular pancreas, C... |
ORPHA:798 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Cryptorchidism, Aplasia/Hypoplasia of the ear... |
ORPHA:2308 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Exaggerated startle response, Joint laxity, Involuntary movements,... |
ORPHA:438213 |
Hypoplasminogenemia |
|
Cervicitis, Periodontitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response, Failure to thrive |
OMIM:617864 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... |
OMIM:163950 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Alagille Syndrome 1 |
|
Failure to thrive, Hypertriglyceridemia, Low-set ears, Hypercholesterolemia, Macrotia |
OMIM:118450 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Leptospirosis |
|
Papilledema, Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Stiff-Person Syndrome |
|
Hyperhidrosis, Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Sial... |
ORPHA:449395 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Hyperinsulinemic hypoglyce... |
ORPHA:2968 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Neonatal hyperbilirubinemia, Hypsarrhythmia |
OMIM:300896 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocele te... |
OMIM:619522 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyro... |
OMIM:617527 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Thrombocytopenia, Weight loss |
ORPHA:79078 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Inguinal hernia, Aganglionic megacolon, Hypercalcemia, Craniosynos... |
ORPHA:821 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperhidrosis, Exaggerated startle response, Failure to thrive, Dystonia |
ORPHA:521426 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response |
OMIM:149400 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Aspiration pneumonia, Dystonia |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response |
OMIM:253800 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveiti... |
OMIM:181000 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Cystic Fibrosis |
|
Male infertility, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Chronic sinusitis, Panc... |
OMIM:219700 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Short umbilical cord |
OMIM:618367 |