Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Sma... |
OMIM:615631 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
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 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az... |
ORPHA:300298 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
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 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Scoliosis, Anemia |
ORPHA:2802 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Persistence of hemoglobin F, Incr... |
OMIM:300946 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
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 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Macrocytic anemia, Thick eyebrow, Micropenis |
OMIM:620071 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia |
ORPHA:294 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... |
ORPHA:232 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:600901 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
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 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
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 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos... |
OMIM:250250 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
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 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megalobla... |
ORPHA:2575 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Short neck, Myelodysplasia, Erythroid... |
ORPHA:124 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anterior wedging... |
OMIM:227645 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb... |
ORPHA:3319 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
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 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Increased mitochondrial number, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia |
ORPHA:27 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Fanconi Anemia, Complementation Group S |
|
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... |
OMIM:617883 |
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 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, Cryptorchidism |
OMIM:249270 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
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 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, ... |
ORPHA:508542 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Short neck, Reticulocytopenia, ... |
OMIM:105650 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
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 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Brain neoplasm, Metrorrh... |
ORPHA:370348 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Reticulocytopenia... |
OMIM:227646 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Neu... |
OMIM:557000 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
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 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia |
ORPHA:309108 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sparse eyebrow, Macrocytic anemia, Granulocytopenia, Low posterior hairline |
OMIM:606164 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Testicular atrophy, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Scoliosis, Neutropenia |
ORPHA:2169 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia |
OMIM:300752 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Hypogonadism |
ORPHA:98673 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Distichiasis, Scoliosis, Anemia |
ORPHA:2598 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Squamous cell carcinoma, Ovarian neoplasm, Basal cell carcinoma, Sparse hair, Aplasia/H... |
ORPHA:50944 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Kyphosis, Normochromic anem... |
OMIM:615512 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol... |
ORPHA:848 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... |
ORPHA:206484 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... |
ORPHA:157798 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Lymphoma, Iron deficiency anemia, Infertility, Thrombocytosis |
OMIM:212750 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Abnormal vertebral morphology, Anemia, Spinal rigidity |
ORPHA:337 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Neutropenia |
OMIM:612562 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Vexas Syndrome |
|
Macrocytic anemia, Myelodysplasia, Thrombocytopenia |
OMIM:301054 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Cowden Syndrome 1 |
|
Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hydrocele... |
OMIM:158350 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Neoplasm, Neo... |
ORPHA:2221 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Thymoma... |
ORPHA:227990 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess |
OMIM:604416 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Short neck, Cryptorchidism, Synophrys, Polysplenia |
OMIM:614294 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoi... |
ORPHA:227982 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia |
ORPHA:79402 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Short neck, Microcytic anemia, Cryptorchidism, HbH hemoglobin, Aplasia/Hypoplasia of... |
ORPHA:98791 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Scoliosis, Microcytic anemia |
OMIM:618811 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Microcytic anemia |
OMIM:618852 |
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 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilocytosis, Hypoc... |
OMIM:615234 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Hypospadias, Microcytic anemia |
OMIM:618972 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair morpholog... |
ORPHA:324737 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Platyspondy... |
ORPHA:296 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia, Abnormal form of the vertebral bodies |
ORPHA:1802 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... |
OMIM:127550 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... |
OMIM:613762 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea |
OMIM:604250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Werner Syndrome |
|
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... |
ORPHA:902 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Hypochromic anemia, ... |
OMIM:600462 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short neck, Microcytic anemia, Hepatosplenomegaly, Scoliosis, Fibroma, Hypertrichosis |
OMIM:619750 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Scarring al... |
ORPHA:79277 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Premature ovarian insufficiency, Eosino... |
ORPHA:199299 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypogonadism, Abnormality of hair texture, Megaloblastic anemia |
ORPHA:79351 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Cryptorchidism, Premature graying of hair, Anemia, Squamous cell carcinoma of the... |
OMIM:620365 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... |
ORPHA:2522 |
Hemochromatosis, Type 2B |
|
Secondary amenorrhea, Splenomegaly, Hypogonadism, Anemia |
OMIM:613313 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Thrombocyto... |
OMIM:619151 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... |
ORPHA:231222 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Blue Rubber Bleb Nevus |
|
Visceral angiomatosis, Cavernous hemangioma, Microcytic anemia |
ORPHA:1059 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia |
OMIM:611490 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Diffuse Neonatal Hemangiomatosis |
|
Hemangiomatosis, Visceral angiomatosis, Anemia, Abnormal vagina morphology, Thrombocytopenia |
ORPHA:2123 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Lymphoma, Anemia |
ORPHA:100025 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Anemia, Hyperlordosis |
ORPHA:1192 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An... |
OMIM:618165 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia |
OMIM:613561 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus, Anemia |
ORPHA:99927 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Tufted Angioma |
|
Thrombocytopenia, Hypertrichosis, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hem... |
ORPHA:1063 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c... |
ORPHA:314478 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypopituitarism, Scoliosis, Microcytic anemia |
OMIM:619013 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... |
ORPHA:2512 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Thoracic scoliosis, Premature ovarian insufficiency, Hypospadias, Hyper... |
ORPHA:2959 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:610198 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Low anterior hairline, Absent toenail, Long eyelashes, Small nai... |
OMIM:618658 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Hypospadias, Anemia |
OMIM:620135 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Microcytic anemia |
ORPHA:79278 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619949 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Hypoplasia of penis, Hypospadias, Anemia |
ORPHA:1046 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Transaldolase Deficiency |
|
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Junctional Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anonychia, Anemia |
ORPHA:79405 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Highly arched eyebrow, Microcytic anemia, Cryptorchidism, Primary ... |
ORPHA:293967 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Kyphosis, Hypoplasia of the prostate, Scoliosis, Micropenis, Scheuermann-like ver... |
OMIM:301900 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Anemia of inadequate production |
OMIM:612714 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Dermotrichic Syndrome |
|
Hyperconvex toenail, Abnormal vertebral morphology, Nail dystrophy, Anemia |
ORPHA:99688 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... |
ORPHA:98849 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Acatalasemia |
|
Neoplasm of the larynx, Microcytic anemia |
ORPHA:926 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anonychia, Anemia |
ORPHA:79406 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Squamous cell carcinoma, Basal cell carcinoma, Nail dystroph... |
ORPHA:79411 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia |
OMIM:618805 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Cryptorchidism, Kyphosis, Low posterior hairline, Premature graying of ha... |
ORPHA:2617 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
Harderoporphyria |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Hamartomatous polyp... |
ORPHA:2930 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis |
ORPHA:796 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism |
ORPHA:85288 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Microcytic anemia |
OMIM:612379 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Oslam Syndrome |
|
Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... |
ORPHA:2330 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... |
OMIM:613011 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Anemia, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Premature ovarian insufficiency, Decreased female libido, ... |
ORPHA:85138 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Neonatal death |
OMIM:611890 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism, Scoliosis |
OMIM:300434 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Klippel-Trénaunay Syndrome |
|
Hemangioma, Abnormality of the menstrual cycle, Microcytic anemia |
ORPHA:90308 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Short neck, Splenomegaly, Low posterior hairline, Normochromic anemia, Nonsphe... |
OMIM:611881 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis |
ORPHA:1548 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Microcytic anemia, Amenorrhea, Hypertrichosis, Hepatosplen... |
ORPHA:168569 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia |
ORPHA:54251 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Anemia |
OMIM:121270 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:613101 |
Winchester Syndrome |
|
Kyphosis, Hirsutism |
OMIM:277950 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Premature graying of hair, Myeloid leukemia, Anemia |
OMIM:614742 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Cholelithiasis, Retic... |
OMIM:232800 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... |
ORPHA:314473 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Thick eyebrow |
ORPHA:2429 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia |
OMIM:257200 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,... |
OMIM:242900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Alopecia totalis, Thrombocytopenia |
OMIM:618775 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma |
ORPHA:166113 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Leukopenia |
OMIM:255125 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis |
OMIM:618512 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Vaginal strict... |
ORPHA:79409 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Familial Benign Copper Deficiency |
|
Early balding, Anemia |
ORPHA:1551 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Secondary amenorrhea, Po... |
ORPHA:3085 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia |
OMIM:616278 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... |
OMIM:616455 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... |
OMIM:611174 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Metrorrhagia, Hematological neoplasm, Menorrhagia, Hypochro... |
ORPHA:99147 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Kyphoscoliosi... |
OMIM:109400 |
Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Breast carcinoma, Hepatosplenomegaly, Melanoma, Ovarian car... |
ORPHA:1333 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Hypospadias, Cryptorchidism, Hemivertebrae, Premature graying of hair, Fair hair, A... |
OMIM:620331 |
Adenohypophysitis |
|
Decreased female libido, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Anemia, Neoplasm, Na... |
ORPHA:3322 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab... |
ORPHA:1359 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Highly arched eyebrow |
OMIM:609384 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Kyphosis, Long eyelashes, Scoliosis, Abnormality of the cervical s... |
ORPHA:48431 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Myelodysplasia, Cryptorchidism, Anemia, Leukopenia, ... |
OMIM:617053 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Hematological neoplasm, Thrombocytopenia, Leukocytosi... |
ORPHA:824 |
Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
Castleman Disease |
|
Myelofibrosis, Weight loss, Anemia, Decreased mean corpuscular volume, Thrombocytopenia |
ORPHA:160 |
Sheehan Syndrome |
|
Dyspareunia, Decreased female libido, Sparse axillary hair, Reduced circulating prolactin concent... |
ORPHA:91355 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Esoph... |
ORPHA:2869 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis |
OMIM:615761 |
Panhypophysitis |
|
Decreased female libido, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia, Concave nail |
ORPHA:54028 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low p... |
ORPHA:2983 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Hemangioma, Thrombocytopenia, Cerebellar medulloblastoma |
OMIM:112200 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Iron deficiency anemia, Ovar... |
OMIM:175200 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Alopecia, Streak ovar... |
ORPHA:2232 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu... |
OMIM:169400 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Hypochromic microcytic anemia, Perineal hypospadia... |
ORPHA:66634 |
Omenn Syndrome |
|
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:39041 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
White hair, Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Kyphosis, Scoliosis |
ORPHA:2471 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Synophrys, Scoliosis, Hypertrichosis |
ORPHA:85317 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Anemia |
ORPHA:2668 |
Barth Syndrome |
|
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Granulocyto... |
OMIM:302060 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Monosomy 22 |
|
Aplasia of the thymus, Short neck, Synophrys, Schwannoma, Hypochromic microcytic anemia, Hepatosp... |
ORPHA:96123 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Renal neoplasm, Alopecia,... |
ORPHA:79474 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, ... |
OMIM:620040 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Frontal upsweep of hair, Kyphosis, Scoliosis |
OMIM:619797 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Transaldolase Deficiency |
|
Pancytopenia, Clitoral hypertrophy, Short neck, Splenomegaly, Synophrys, Hepatosplenomegaly, Anem... |
OMIM:606003 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Kyphoscoliosis, Fluctuating splenomegaly, Leukocytosis, Hepatosple... |
OMIM:610377 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... |
ORPHA:3082 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Synophrys, Scoliosis |
ORPHA:505652 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia |
OMIM:607906 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Kyphoscoliosis, Cryptorchidism, Kyphosis, Reduced alpha/beta synthesis ratio, Hemive... |
OMIM:301040 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne... |
OMIM:304790 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:352490 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia |
OMIM:612073 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular v... |
ORPHA:3042 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Kyphosis, Anemia, Leukopenia, Vertebral compression fr... |
ORPHA:77259 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia |
OMIM:530000 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Cryptorchidism, Kyphoscoliosis, Kyphosis, Scoliosis |
OMIM:618484 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis |
OMIM:618237 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma |
OMIM:613951 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Vertebral compression fractu... |
OMIM:230800 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Kyphosis, Shawl scrotum, Micropenis, Decreased testicular size |
OMIM:615433 |
Majeed Syndrome |
|
Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia |
ORPHA:77297 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail |
OMIM:313420 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Kyphosis, Long eyelash... |
OMIM:619005 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Patchy alopecia, Poliosis |
OMIM:141300 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal form of the vertebral bodies, Neoplasm of the central nervous sy... |
ORPHA:744 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm |
ORPHA:87 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Highly arched eyebrow, Supernumerary nipple, Myelodysplasia, Cryptorchidism, Kyphosis, Micropenis... |
OMIM:619951 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele |
ORPHA:49041 |
Noonan Syndrome 14 |
|
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low posterior hairline, Sparse ... |
OMIM:619745 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Kyphoscoliosis, Short neck, Acanthocytosis, Scoliosis, Poikilocytosis |
OMIM:618947 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypoplastic vertebral bodies, Scolios... |
OMIM:230500 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ... |
ORPHA:1775 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Becker Nevus Syndrome |
|
Hamartoma, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, ... |
ORPHA:64755 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Anoperineal fistula, Hypochromic anemia, Thrombocytosis |
OMIM:618213 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Synophrys, Hirsutism, Scoliosis |
OMIM:300861 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Red... |
OMIM:301074 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyphosis, Medu... |
ORPHA:77301 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatosplenomegaly |
ORPHA:99931 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Infertility, Varicocele, Anemia |
ORPHA:71273 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity |
OMIM:615084 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Premature ovarian insufficiency, Scoliosis |
OMIM:618124 |
Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Scoliosis |
OMIM:300337 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphoma, Leukemia, Monoclonal immun... |
ORPHA:33226 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leu... |
OMIM:603467 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Crouzon Syndrome |
|
Abnormality of the cervical spine, Dysgerminoma |
OMIM:123500 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia |
OMIM:620296 |
Kleefstra Syndrome 2 |
|
Kyphosis, Thick eyebrow, Scoliosis |
OMIM:617768 |
Schaaf-Yang Syndrome |
|
Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis, Micropenis, Thick eyebrow |
OMIM:615547 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Sialidosis Type 2 |
|
Splenomegaly, Kyphosis |
ORPHA:87876 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega... |
OMIM:214500 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Highly arched eyebrow, Kyphosis, Thick eyebrow, Scoliosis |
OMIM:615834 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia, Pineal cyst |
OMIM:618885 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Scoliosis |
OMIM:614409 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Cryptorchidism, Kyphosis, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:300354 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Alopecia, Thymoma |
OMIM:269200 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Kyphosis, Coarse hair, Scoliosis, Sparse hair |
ORPHA:1883 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis |
OMIM:180870 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Alpha-Mannosidosis |
|
Splenomegaly, Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ... |
OMIM:305000 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... |
ORPHA:352447 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Hypertrichosis |
OMIM:614898 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Scoliosis |
OMIM:300602 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia |
OMIM:619423 |
Diastrophic Dysplasia |
|
Cryptorchidism, Kyphosis, Visceral angiomatosis, Abnormal form of the vertebral bodies, Scoliosis... |
ORPHA:628 |
Leukocyte Adhesion Deficiency Type Ii |
|
Broad eyebrow, Neutrophilia, Microcytic anemia, Leukocytosis, Low anterior hairline, Long eyelash... |
ORPHA:99843 |
Hemochromatosis, Type 5 |
|
Anemia |
OMIM:615517 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia |
ORPHA:247691 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism |
ORPHA:3409 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic labia majora, Lumbar scolios... |
OMIM:609128 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Short neck, Early balding, Desmoid tumors, Low posterior hairline, Iron deficiency anemia, Osteom... |
ORPHA:261584 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Cryptorchidism, Kyphosis, Spina... |
ORPHA:2311 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Kyphosis, Mic... |
ORPHA:94065 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Anemia |
ORPHA:440713 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Alopecia, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased respon... |
ORPHA:273 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Woolly hai... |
OMIM:619244 |
Cowden Syndrome 6 |
|
Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hydrocele testis, Ov... |
OMIM:615109 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Cohen Syndrome |
|
Thick hair, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Low anterior hairline, Long ey... |
ORPHA:193 |
Sandifer Syndrome |
|
Anemia, Decreased cervical spine mobility |
ORPHA:71272 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology, Generalized hirsutism |
ORPHA:3121 |
Baralle-Macken Syndrome |
|
Kyphosis, Hirsutism |
OMIM:619255 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Myelodysplasia, Abnormal preputium morph... |
ORPHA:84 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism |
ORPHA:238750 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... |
ORPHA:2916 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Scoliosis, Short neck |
ORPHA:75840 |
Ménétrier Disease |
|
Hypochromic microcytic anemia |
ORPHA:2494 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... |
ORPHA:480536 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, White hair, Anemia, Fine hair |
ORPHA:935 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight |
OMIM:619769 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia |
OMIM:300972 |
Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Short neck, Cryptorchidism, Kyphosis, Low anterio... |
ORPHA:261318 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in ... |
ORPHA:37042 |
Cowden Syndrome 5 |
|
Subcutaneous lipoma, Kyphosis, Breast carcinoma, Hydrocele testis, Ovarian cyst, Hamartomatous po... |
OMIM:615108 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Gm1 Gangliosidosis |
|
Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Hepatosplenomegaly,... |
ORPHA:354 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased female libido, Sparse axillary hair |
ORPHA:95409 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Anemia |
ORPHA:169105 |
Trisomy 13 |
|
Abnormal eyelash morphology, Kyphosis, Cryptorchidism, Capillary hemangioma, Scoliosis, Displacem... |
ORPHA:3378 |
Vipoma |
|
Neoplasm of the pancreas, Follicular thyroid carcinoma, Elevated circulating growth hormone conce... |
ORPHA:97282 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... |
ORPHA:97214 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis, Synophrys, Scoliosis, Gene... |
ORPHA:254346 |
Camurati-Engelmann Disease |
|
Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral column, Hypogonad... |
ORPHA:1328 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the nails |
OMIM:619123 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Scoliosis, Thick eyebrow |
OMIM:300280 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platysp... |
OMIM:616482 |
Lead Poisoning |
|
Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell... |
ORPHA:330015 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Glucagonoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Acanthocytosis, Incr... |
ORPHA:97280 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Parotitis, Lymphoproliferative disorder, Lymphoma, Leukopenia... |
ORPHA:289390 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Kyphosis, Scoliosis, Cryptorchidism |
OMIM:615381 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Sialidosis Type 1 |
|
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
Spondyloenchondrodysplasia |
|
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stim... |
ORPHA:1855 |
Arteriosclerosis, Severe Juvenile |
|
Dysplasia of second lumbar vertebra, Anemia |
OMIM:208060 |
3M Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... |
ORPHA:2616 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck, Hepatosplenomegaly |
OMIM:608776 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Splenomegaly, Hypoplasia... |
OMIM:253220 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Decreased proportion of CD8-... |
ORPHA:508533 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficiency anemia, ... |
OMIM:619488 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
Neuroendocrine Neoplasm Of Appendix |
|
Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of the... |
ORPHA:100079 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor... |
ORPHA:398069 |
Developmental And Epileptic Encephalopathy 50 |
|
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis |
OMIM:616457 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Hypergonadotropic hypogonadism, Scoliosis |
OMIM:248800 |
Flynn-Aird Syndrome |
|
Kyphosis, Alopecia, Scoliosis |
ORPHA:2047 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Hypogonadism, Scolio... |
ORPHA:85293 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia |
OMIM:618372 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Scoliosis |
ORPHA:404440 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitoral hypoplasia, Sco... |
ORPHA:2510 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Sparse axillary hair, Microcytic anemia, Splenomegaly, Epididymitis, Irregular menstru... |
OMIM:256040 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Sacral dimple, Kyphosis, Anemia |
OMIM:620185 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Brain abscess, Liver abscess |
ORPHA:2038 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Hereditary Hemorrhagic Telangiectasia |
|
Visceral angiomatosis, Cholelithiasis, Cavernous hemangioma, Microcytic anemia |
ORPHA:774 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia |
ORPHA:48818 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchid... |
ORPHA:96169 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Kyphosis, Hirsutism, Scoliosis |
OMIM:607015 |
Neuroendocrine Tumor Of Stomach |
|
Paraganglioma, Iron deficiency anemia, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100075 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... |
OMIM:176270 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Low p... |
ORPHA:2789 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Kyphosis, Scoliosis, Gonadal dysgenesis,... |
ORPHA:2075 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Nephroblastoma |
OMIM:618272 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair |
OMIM:617988 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464282 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Cryptorchidism, Kyphosis, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis... |
ORPHA:2215 |
Harrod Syndrome |
|
Cryptorchidism, Kyphosis, Hypospadias, Scoliosis |
ORPHA:2115 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Precocious puberty, Cryptorchidism, Kyphosis, Chronic myelog... |
ORPHA:636 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:90322 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Micropenis, Kyphosis, Scoliosis |
ORPHA:364028 |
Marden-Walker Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis |
OMIM:248700 |
Trisomy 9P |
|
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... |
ORPHA:236 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Facial hemangio... |
ORPHA:7 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of hair, Scoliosis, Hi... |
OMIM:617061 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anterior hairline |
OMIM:314580 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervical C2/C3 vertebral f... |
OMIM:617190 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... |
ORPHA:201 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Alstrom Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:203800 |
Abetalipoproteinemia |
|
Reticulocytosis, Kyphoscoliosis, Anemia, Acanthocytosis |
ORPHA:14 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
Pycnodysostosis |
|
Ridged nail, Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepa... |
ORPHA:763 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Anemia, Bile duct proliferation, Scoliosis, Thrombocytopenia |
OMIM:619525 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Scoliosis, Neonatal death |
OMIM:620351 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Kyphosis |
OMIM:212065 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Kyphosis, Coarse hair, Scoliosis, Biconcave vertebr... |
OMIM:130720 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Kyphosis, Scoliosis, Sparse hair, Clitoral hypertrophy |
OMIM:616449 |
Emanuel Syndrome |
|
Sacral dimple, Cryptorchidism, Kyphosis, Scoliosis, Micropenis |
OMIM:609029 |
Fountain Syndrome |
|
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic... |
ORPHA:3219 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Kyphosis, Vertebral segmentation defect, Scoliosis, Sparse hair, Abnormal toenail morph... |
ORPHA:1005 |
Somatostatinoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:97283 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Long eyelashes, Hypoplastic... |
ORPHA:79329 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Hypogonadism, Long eyelashes, Scoliosi... |
ORPHA:261349 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Lymphopenia, Rectovaginal fistula |
OMIM:619708 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... |
ORPHA:958 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compression fr... |
OMIM:219090 |
Ogden Syndrome |
|
Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Hydrocele testis, Iron deficiency anemia, ... |
OMIM:300855 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:3191 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Scoliosis, Thick eyebrow |
OMIM:618443 |
Mucopolysaccharidosis, Type Ii |
|
Short neck, Splenomegaly, Kyphosis, Hepatosplenomegaly, Hypertrichosis |
OMIM:309900 |
Hurler Syndrome |
|
Short neck, Splenomegaly, Hypoplasia of the odontoid process, Kyphosis, Hepatosplenomegaly, Bicon... |
OMIM:607014 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Abnormality of hair texture, Cryptorchidism, Kyphosis, Scoliosis... |
OMIM:610443 |
Marburg Hemorrhagic Fever |
|
Back pain, Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Leukope... |
ORPHA:99826 |
Cdags Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectovaginal fistula |
OMIM:603116 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Kyphosis, Fine hair, Hydrocele testis, Scoliosis, Spar... |
OMIM:277590 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Hypoplastic toenails, Cryptorchidism, Kyphosis, Synophrys, Low anterior hairline, Abn... |
ORPHA:251014 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis |
ORPHA:98863 |
Aspartylglucosaminuria |
|
Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutropenia, Macroorch... |
OMIM:208400 |
Poland Syndrome |
|
Hypospadias, Short neck, Retinal hamartoma, Cryptorchidism, Kyphosis, Hemivertebrae, Acute leukem... |
ORPHA:2911 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased response to gro... |
ORPHA:699 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Kyphosis, Hydrocele testis, Scoliosis, Nephroblastoma |
ORPHA:314588 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia |
ORPHA:309031 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:617602 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Small intestine carcinoid |
ORPHA:100078 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis |
ORPHA:171436 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Micropenis |
OMIM:619718 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98855 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Bilateral cryptorchidism... |
OMIM:602535 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:568 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis, Micropenis |
ORPHA:500055 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumbar vertebrae, Spleno... |
ORPHA:955 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98853 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Sparse scalp hair, Hyperparathyroidism, Cryptorchi... |
ORPHA:534 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Low anterior hairline |
ORPHA:261222 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, ... |
ORPHA:800 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Kyphosis |
OMIM:610475 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... |
ORPHA:140 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Squamous cell carcinoma, Iron deficiency anemia, Basal cell carcinoma, Nail dystrophy, Cutaneous ... |
ORPHA:79408 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Hypospadias, Thoracolumbar scoliosis, Short neck, Crypt... |
OMIM:265000 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... |
OMIM:253010 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent coccyx, Sc... |
OMIM:300966 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow |
OMIM:609944 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:254090 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Alopecia, Kyphoscoliosis, Cryptorchidism, Kyphosis |
ORPHA:536532 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Male infertility, Primary amenorrhea, Testicular neoplasm |
ORPHA:99429 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Clitoral hypoplasia, Long eyelashes, Scolios... |
OMIM:616894 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, Kyphosis, Male urethral meatus stenosis, Scoliosi... |
ORPHA:464738 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Exostoses |
ORPHA:1798 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Low anterior hairline |
OMIM:619909 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Precocious puberty, ... |
ORPHA:97685 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Sacral dimple, Alopecia, Short neck, Cryptorchidism, Kyphosis, Vertebral seg... |
ORPHA:1507 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Cockayne Syndrome A |
|
Dry hair, Splenomegaly, Cryptorchidism, Kyphosis, Irregular menstruation, Hypogonadism, Sparse ha... |
OMIM:216400 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter, Me... |
OMIM:162300 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormal fingernail morphology, Elevated circulating... |
ORPHA:314769 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Coffin-Lowry Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Scoliosis, Hypoplastic ... |
ORPHA:192 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Acromegaly |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormal fingernail morphology, Elevated circulating... |
ORPHA:963 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Cockayne Syndrome B |
|
Dry hair, Abnormal hair morphology, Splenomegaly, Kyphosis, Cryptorchidism, Sparse hair, Micropenis |
OMIM:133540 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body, Long eyelashes |
OMIM:618476 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Fair hair, Hypospadias, Alopecia, Testicular neoplasm, Hyperlordosis, Precocious p... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Fair hair, Hypospadias, Alopecia, Testicular neoplasm, Hyperlordosis, Precocious p... |
ORPHA:363958 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Kyphoscoliosis, Sparse eyebrow, Cryptorchidism, Kyphosis, Synophrys, Abnormality of ... |
ORPHA:3063 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptor... |
ORPHA:1606 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Hypospadias, Highly arched eyebrow, Cryptorchidism, Kyphosis, Abnormal form of the... |
ORPHA:280 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... |
ORPHA:2658 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Gitelman Syndrome |
|
Parathyroid adenoma, Iron deficiency anemia, Neoplasm of the pancreas |
ORPHA:358 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Highly arched eyebrow, Precocious... |
OMIM:194190 |
Ramon Syndrome |
|
Enlarged labia minora, Kyphosis, Gingival fibromatosis, Scoliosis, Hypertrichosis |
OMIM:266270 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... |
OMIM:300942 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short nail, Scoliosis, Short neck |
ORPHA:420794 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Capillary hemangioma, Scoliosis, High... |
OMIM:619194 |
Alexander Disease |
|
Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis |
ORPHA:58 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Neoplasm, Kyphosis, Adrenal hyperplasia, Macronodular adrenal hyperplasia |
OMIM:219080 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Mucolipidosis Type Ii |
|
Dry hair, Splenomegaly, Kyphosis, White hair, Hepatosplenomegaly, Fine hair |
ORPHA:576 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Abno... |
ORPHA:464306 |
Fucosidosis |
|
Kyphosis, Abnormality of the nail, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Cryptorchidism, Kyphosis, Posterior pituitary hypoplasia, Scoliosis, Micropenis, Abn... |
ORPHA:464311 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Sacral dimple, Thick eyebrow, Hypospadias, Dry hair, Cryptorchidism, Kyphosis,... |
OMIM:135900 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Short neck, Abnormal eyelash morpholo... |
ORPHA:818 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Kyphosis,... |
ORPHA:2273 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Synophrys, Scoliosis |
ORPHA:476126 |
Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2479 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Secondary amenorrhea |
OMIM:610489 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Hyperconvex nail |
OMIM:258850 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Thin fingernail, Hypospadias, Absent eyelashes, Kyphosis |
ORPHA:85199 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis |
OMIM:618493 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Scoliosis, Hypertrichosis |
OMIM:618050 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... |
ORPHA:268261 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... |
ORPHA:881 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Micropenis, Broad eyebrow |
ORPHA:457359 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Kyphosis, Visceral angiomatosis, Vertebral compression fracture, Abnormal form... |
ORPHA:666 |
Cockayne Syndrome Type 3 |
|
Dry hair, Splenomegaly, Kyphosis, Premature graying of hair, Scoliosis |
ORPHA:90324 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Cryptorchidism, Kyphosis, Sparse ant... |
ORPHA:821 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Synophrys, Scoliosis |
OMIM:619557 |
Cockayne Syndrome |
|
Dry hair, Splenomegaly, Kyphosis, Cryptorchidism, Fine hair, Scoliosis |
ORPHA:191 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Kyphosis, Abnormal form of the vertebral bodi... |
ORPHA:2461 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Hirsutism |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Hirsutism |
ORPHA:521426 |
Occipital Horn Syndrome |
|
Pelvic bone exostoses, Kyphosis, Bladder carcinoma, Platyspondyly, Coarse hair, Pili torti, Exost... |
OMIM:304150 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis, Sparse eyebrow... |
OMIM:143095 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Back pain, Broad eyebrow, Hypospadias, Kyphosis, Synophrys, Neurofibroma, Abnormal... |
OMIM:619475 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis... |
OMIM:303600 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Mend Syndrome |
|
Cryptorchidism, Sacral dimple, Kyphosis |
ORPHA:401973 |
Mend Syndrome |
|
Cryptorchidism, Sacral dimple, Kyphosis |
OMIM:300960 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Classic Homocystinuria |
|
Kyphosis, Sparse scalp hair, Scoliosis |
ORPHA:394 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Scoliosis |
OMIM:300967 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Sparse eyebrow, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Zttk Syndrome |
|
Curly hair, Absent gallbladder, Sparse eyebrow, Kyphosis, Hemivertebrae, Scoliosis, Broad eyebrow |
OMIM:617140 |
Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Kyphosis, Distichiasis |
OMIM:153400 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Occipital Horn Syndrome |
|
Thick hair, Kyphosis, Platyspondyly, Coarse hair, Scoliosis, Exostoses |
ORPHA:198 |
Wrinkly Skin Syndrome |
|
Short nail, Cryptorchidism, Kyphosis, Scoliosis, Sparse hair, Fragile nails |
OMIM:278250 |
Branchiooculofacial Syndrome |
|
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Low poste... |
OMIM:113620 |
Primrose Syndrome |
|
Sparse scalp hair, Hypergonadotropic hypogonadism, Absent facial hair, Bilateral cryptorchidism, ... |
OMIM:259050 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Williams Syndrome |
|
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Abnormal fingernail morphology... |
ORPHA:904 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1969 |
Lowe Oculocerebrorenal Syndrome |
|
Cryptorchidism, Platyspondyly, Kyphosis, Scoliosis |
OMIM:309000 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Kyphosis, Hypereosinophili... |
OMIM:619472 |
Alström Syndrome |
|
Thoracic scoliosis, Precocious puberty in females, Hypergonadotropic hypogonadism, Frontal baldin... |
ORPHA:64 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Stickler Syndrome |
|
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:828 |
Marfan Syndrome |
|
Kyphosis, Scoliosis, Spondylolisthesis |
ORPHA:558 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Sparse e... |
OMIM:216340 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |