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 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
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 13 |
|
Normocytic anemia |
OMIM:615909 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia |
ORPHA:27 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis |
ORPHA:408 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
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 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia, Cryptorchidism, Muscular ventricular septal defect, Micropenis, Failure to thr... |
OMIM:620071 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short neck, Low anterior hairline, Osteop... |
OMIM:616033 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
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 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... |
OMIM:300604 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Osteoporosis, Nail ... |
OMIM:618625 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis, Hearing impairment |
OMIM:615269 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils, Endocardia... |
ORPHA:111 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increase... |
OMIM:136300 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity, Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... |
ORPHA:846 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Cholelithiasis, Anemia of inadequate production |
OMIM:224100 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... |
ORPHA:397685 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Opt... |
OMIM:600118 |
Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Joint laxity, Failure to thrive, Mic... |
OMIM:600462 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Failure to thrive, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Low-set ears, Decreased skull ossificati... |
OMIM:601163 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Low-set ears, Decreased body weight, Macrotia, Thrombocytopenia |
OMIM:613606 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg... |
OMIM:235200 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:3363 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia |
ORPHA:309108 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, Cryptorchidism |
OMIM:249270 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Winchester Syndrome |
|
Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteoporosis |
OMIM:277950 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas... |
ORPHA:2232 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Osteoporo... |
ORPHA:48431 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... |
OMIM:305400 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Sensorineural ... |
OMIM:222300 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... |
OMIM:127550 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th... |
ORPHA:2786 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul... |
ORPHA:3294 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Pili torti, Abnormal testis... |
ORPHA:202 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Lymphadenopathy, Microcytic anemia |
OMIM:618852 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Scoliosis, Decreased activity of mitochondrial co... |
OMIM:618234 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Scoliosis, Lower limb amyotrop... |
OMIM:617087 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we... |
ORPHA:352470 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Join... |
ORPHA:465508 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... |
OMIM:617052 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Posteriorly rotated ears, Kyphoscoliosis, Osteoporosis, Low-set ears, Failure to th... |
OMIM:614727 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary ... |
OMIM:610628 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism, Inguinal hernia, Osteoporosis |
ORPHA:2958 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Myotonic Dystrophy 1 |
|
Frontal balding, Cerebral atrophy, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Test... |
OMIM:160900 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess |
OMIM:604416 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Kyp... |
OMIM:615381 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Kypho... |
OMIM:214150 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, High palate, Scoliosis, Joint contracture, Lower limb muscle w... |
OMIM:611225 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism, Cachexia |
ORPHA:2574 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Prieto Syndrome |
|
Cryptorchidism, Inguinal hernia, Osteoporosis |
OMIM:309610 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Decreased circulating a... |
OMIM:618165 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture... |
OMIM:300718 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty, Hearing impairment |
OMIM:615271 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Lipoatrophy, Kyphosis, Cryptorchidism, Low posterior hairline, Premature ... |
ORPHA:2617 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Onychauxis, Abnormal hair morphology, Fractures of the long bones, Osteoporosis, Hype... |
ORPHA:319195 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility |
OMIM:615703 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ... |
OMIM:614880 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Cryptorc... |
ORPHA:3409 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Low-... |
OMIM:228600 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dy... |
ORPHA:1875 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... |
ORPHA:481 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy |
ORPHA:276183 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Scoliosis, Spar... |
ORPHA:2850 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Calf muscle hypertrophy, Dysphagia, Limb muscle weakness, Testicular atrophy |
OMIM:313200 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Increased circulating gonadotropin level, Sensorineural hearing impairment, O... |
OMIM:233400 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Cryptorchidism, Face... |
OMIM:618000 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, K... |
ORPHA:2047 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Testicu... |
OMIM:613987 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Lipodystrophy, Elbow flexion contracture, Osteo... |
OMIM:616200 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Osteoporosis, Thyroiditis, Rickets, Weight loss, Iron deficiency ane... |
OMIM:212750 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Cholel... |
OMIM:615512 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Hypogonadotropic hypogona... |
OMIM:612079 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, High palate, ... |
OMIM:255800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... |
OMIM:157640 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abno... |
ORPHA:317 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal nerve c... |
ORPHA:101075 |
Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegaly, Pericar... |
OMIM:239850 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center |
ORPHA:277 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Cholelithiasis, Thrombocytopenia |
ORPHA:848 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Dilated cardiomyopathy, Osteoporosis, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Synophrys, High palate, Thickened helices, Small earlobe, Hypospadias, Spa... |
ORPHA:3063 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost... |
OMIM:614856 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:603909 |
Hamamy Syndrome |
|
Hypoparathyroidism, Atrial septal defect, Osteopenia, Inguinal hernia, Sparse eyelashes, Recurren... |
OMIM:611174 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Optic atrophy, Osteoporosis |
ORPHA:2787 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... |
ORPHA:231222 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Patent ductus arteriosus, Low anterior hairline, Flexion contrac... |
OMIM:618658 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Posteriorly rotated ears, Kyphosis, Reduced bone mineral density, Dela... |
OMIM:618392 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity, Chro... |
OMIM:616435 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, EEG with burst suppression, Osteoporosis, Gastroesophageal reflux, Atrophy/De... |
OMIM:619971 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Kyphosis, Splenomegaly, Flexion contracture, Osteoporosis, Hearing impai... |
ORPHA:87876 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Facial hypotonia, Short nec... |
ORPHA:85194 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619518 |
Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Incre... |
ORPHA:902 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Cryptorchidism, Abnormal... |
ORPHA:1867 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, Long eye... |
ORPHA:3051 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Barth Syndrome |
|
Failure to thrive, Cyclic neutropenia, Dilated cardiomyopathy, Abnormal mitochondrial morphology,... |
OMIM:302060 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones of the upper l... |
ORPHA:371428 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, High pal... |
OMIM:618393 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Microcytic anemia |
ORPHA:79278 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragm... |
OMIM:614294 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... |
ORPHA:352447 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:617243 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Myopathy, Atrophic scars, S... |
OMIM:616471 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... |
ORPHA:398069 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia |
OMIM:613561 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Kyphosis, Cryptorchidism, Abno... |
ORPHA:352490 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti... |
ORPHA:99852 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... |
ORPHA:2325 |
Hall-Riggs Syndrome |
|
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasi... |
OMIM:234250 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Cryptorchidism, Osteoporo... |
OMIM:613990 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... |
ORPHA:178148 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Short neck, Paucity of anterior ... |
OMIM:611890 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Scoliosis, Hearing impair... |
ORPHA:101078 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... |
OMIM:619375 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia |
OMIM:114580 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... |
ORPHA:199299 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Kyphosis, Obesity, Hypoplasia of the prostate, EEG abnormality, Scoliosis, Delaye... |
OMIM:301900 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Decreased circulating antibody level, Weight loss, Leu... |
ORPHA:33355 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Thoracic scoliosi... |
ORPHA:2959 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Cryptorchidism |
OMIM:310465 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... |
ORPHA:3085 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... |
OMIM:254090 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Cryptorchidism, Synophrys, Kyphosis, Aplasia/Hypopla... |
ORPHA:2471 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, White hair, Hyperhidrosis, Premature graying of ha... |
ORPHA:1775 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Absence of pubertal development, Hypogonadism, Hearing impairment |
OMIM:615267 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Vertigo... |
ORPHA:77296 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:98754 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Anemia of inadequate production |
OMIM:612714 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Abnormality of chromosome stability, Hypopigmentation of hair, Diabetes ... |
ORPHA:100 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Ragged-red ... |
OMIM:613662 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Alopecia, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Nail dysplasia... |
OMIM:615704 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Failure to thrive, He... |
OMIM:618237 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Flexion contrac... |
OMIM:215100 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... |
OMIM:607624 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemophagocytosis, ... |
OMIM:301078 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... |
ORPHA:77297 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Kyphosis, Small for gestational age, Hirsutism |
ORPHA:85288 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Shashi-Pena Syndrome |
|
Posteriorly rotated ears, Highly arched eyebrow, Kyphosis, Synophrys, Patent ductus arteriosus, C... |
OMIM:617190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, H... |
OMIM:606612 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:98793 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... |
OMIM:615084 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Leukopenia, Aplasi... |
ORPHA:227990 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Diabetes mellitus,... |
ORPHA:3242 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Kyphosis, Synophrys, Cleft palate, Protruding ear, Decreased circulating anti... |
ORPHA:85317 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology |
ORPHA:1548 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Anterior pituitary... |
ORPHA:227982 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Sensorineural hearing impairment, M... |
OMIM:616455 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:177904 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Decreased m... |
ORPHA:298 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Esophageal stricture, Osteoporosis,... |
OMIM:613989 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreased pr... |
OMIM:607594 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Osteoporosis |
OMIM:614838 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:177901 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Centrally nucleated ... |
OMIM:619542 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
Icf Syndrome |
|
Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Facial palsy, Cachexia, Abnormal cranial nerve morpho... |
ORPHA:97229 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Os... |
OMIM:259450 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Short neck, Cryptorchidism, Flexion contracture, Failure to thriv... |
ORPHA:98791 |
Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia |
OMIM:618624 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Microcytic anemia |
OMIM:618972 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... |
ORPHA:895 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aganglionic megaco... |
ORPHA:897 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Small for gestational age, Congenital sensorineural hearing impairment, Sensor... |
ORPHA:73272 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Recurrent fractures, Mic... |
ORPHA:168569 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia |
OMIM:618805 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Ca... |
ORPHA:2930 |
Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Thick hair, Ventricular septal defect, Cardiomeg... |
ORPHA:363705 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelashes, Lipodystrophy, Kyphosco... |
ORPHA:75496 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hyperlordosis, Spinal rigidity, Pyloric stenosis, Centrally nucleated skeletal muscle... |
OMIM:613327 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Joint laxity, Hypospadias, Cryptorchidism, Osteoporosis, Umbil... |
OMIM:102500 |
Macs Syndrome |
|
Joint laxity, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Osteoporo... |
OMIM:613075 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Recurrent fractures, Hearing impairment, Cranial hyperostosi... |
ORPHA:2801 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis... |
OMIM:615830 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Delayed puberty, Dis... |
ORPHA:2598 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, High palate, Scoliosis,... |
OMIM:236200 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Pericardial eff... |
ORPHA:2905 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Abnormality of the auditory canal, Kyphosis, Joint hyperflexibility, Upper limb hypertonia, Failu... |
ORPHA:319199 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Hypogonadotropic hypogonadism, Osteolysis, Abnormal toenail morphology, Abnormality of ... |
ORPHA:494 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Normochromic m... |
OMIM:610198 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Osteoporosis, Delayed puberty, Hypertrophic cardiomyopathy, Failure to ... |
ORPHA:369 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia, Cryptorchidism |
OMIM:620365 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... |
OMIM:620351 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... |
OMIM:150800 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... |
OMIM:301040 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Sparse eyebrow, Osteoporos... |
OMIM:614008 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Weight loss, Cardiomegaly |
ORPHA:85447 |
Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involvin... |
ORPHA:88630 |
Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Poliosis, Kyphosis, Horner syndrome, Patchy alopecia, Microtia |
OMIM:141300 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Joint stiffness, Absent eyelashes, Sparse eyebrow, Decreased body weigh... |
ORPHA:2985 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Leukopenia |
OMIM:255125 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorch... |
OMIM:619718 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... |
OMIM:176270 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Malabsorption, Splenomegaly, Osteoporosis, Failure to thrive |
ORPHA:79301 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Pathologic fracture, Optic atrophy, Fine hair, Premat... |
OMIM:612199 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:739 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Metrorrhagia, Menorrhagia, Pulmonic stenosis, Hypochromic a... |
ORPHA:99147 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... |
OMIM:300998 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Malabsorption, Hypersplenism, Thrombocytopenia, Leukoc... |
ORPHA:98850 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Progressive hearing i... |
OMIM:613849 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber diamete... |
OMIM:125250 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH le... |
OMIM:219090 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Hypogonadotropic hypogonadism, Decreased response to growt... |
ORPHA:157954 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R... |
ORPHA:79474 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegal... |
ORPHA:1517 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Hypospadias, Micropenis |
OMIM:618840 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Kyphosis, Synophrys, Protruding ear, Decreased circulating total IgM, Scolios... |
OMIM:300861 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypopituitarism, Microcytic anemia |
OMIM:619013 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardio... |
ORPHA:66634 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Sho... |
ORPHA:2983 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis |
OMIM:257200 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Diencephalic Syndrome |
|
Cachexia, Macrotia, Long penis, Optic atrophy, Hyperhidrosis, Decreased body weight, Abnormality ... |
ORPHA:1672 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Precocious puberty, Osteopo... |
ORPHA:447980 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Obesity, Cerebral atrophy, Scol... |
OMIM:616756 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernai... |
ORPHA:2251 |
Werner Syndrome |
|
Low back pain, Diabetes mellitus, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral den... |
OMIM:277700 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... |
OMIM:618187 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... |
ORPHA:189427 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Diffuse cerebral atrophy, Kyphoscoliosis, Cervical spondylosis, Pseudobulbar paralysis... |
ORPHA:199354 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis, Failure to thrive, Hearing impairment |
ORPHA:796 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... |
ORPHA:331206 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Cryptorchidism, Patent ductus arteri... |
OMIM:619797 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abnormal nerve conduction veloci... |
ORPHA:99014 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... |
OMIM:615290 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Craniosynostosis, Bila... |
ORPHA:2409 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Dysmenorrhea, Increased sarcoplasmic glycogen, Abnormal er... |
ORPHA:264580 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Estrogen Resistance Syndrome |
|
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... |
ORPHA:785 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98855 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Hearing impairment, Mi... |
ORPHA:324737 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Microtia, Camptodactyly, Intestinal lymphangiectasia, Hearing impairment |
OMIM:616006 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia |
OMIM:616278 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
Intestinal Dysmotility Syndrome |
|
Weight loss, Decreased intestinal transit time, High palate, Low-set ears, Failure to thrive |
OMIM:620045 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, High palate, Spina bifida occulta, Wrist flexion contractur... |
OMIM:193700 |
X-Linked Agammaglobulinemia |
|
Alopecia, Osteomyelitis, Malabsorption, Thrombocytopenia, Sensorineural hearing impairment, Hypop... |
ORPHA:47 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Type II diabetes mellitus, Gout |
OMIM:610947 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH co... |
OMIM:219080 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Premature ovarian insufficiency, Streak ovary, Sparse pubic hair, Increased circulati... |
ORPHA:243 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis, Sensorineural hearing impairment |
ORPHA:71267 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... |
OMIM:601455 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Ovoid vertebral bod... |
OMIM:253000 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... |
ORPHA:894 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Tongue atrophy, Skeletal muscle atrophy... |
ORPHA:101085 |
Wilson Disease |
|
Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Increased body weight,... |
ORPHA:905 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia, Lymphadenopathy |
ORPHA:397596 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased response to growth hormone stim... |
ORPHA:273 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... |
OMIM:613265 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Cerebral atrophy, Camptodactyly |
OMIM:618453 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Mogs-Cdg |
|
Decreased circulating IgG level, Absent brainstem auditory responses, Alopecia, Thoracic scoliosi... |
ORPHA:79330 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Osteopenia, Camptodactyly of finger, Osteomalacia, Mal... |
ORPHA:2176 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
Isaacs Syndrome |
|
EEG abnormality, Calf muscle hypertrophy, Weight loss, Hyperhidrosis |
ORPHA:84142 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Mixed hearing impairment, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio... |
ORPHA:157973 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Alopecia, Flexion contracture |
OMIM:203550 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... |
ORPHA:75840 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess |
OMIM:241600 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Cranial h... |
ORPHA:330015 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Dilated cardiomyopathy, Oste... |
ORPHA:2326 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98853 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Abnor... |
ORPHA:1979 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Hepatomegaly, Iron deficiency anemia, Decreased body weight, Hypothyroidism |
OMIM:607906 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Gastroesophageal reflux, Hirsutism, Scoliosis |
OMIM:300434 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Hepatomegaly, Pericardial effusion, Osteoporosis, Hepatosplenomeg... |
OMIM:619487 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Abnormal pinna morphology, Abnormal hair morphology, Osteoporosis, Low-set ears |
OMIM:601811 |
Ck Syndrome |
|
Posteriorly rotated ears, Hyperlordosis, Kyphosis, High palate, Scoliosis, Abnormal cortical bone... |
OMIM:300831 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Craniosynostosis, Osteoporosis... |
ORPHA:1515 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Osteoporosis, Anemia, Cardiomyopathy, Neutropenia, Failure to thrive,... |
OMIM:606054 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Hemivertebrae, Scoliosis, Decreased testicular size |
ORPHA:85284 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... |
ORPHA:2771 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Thrombocytopenia, Esophageal ... |
OMIM:224230 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia |
ORPHA:79351 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Dysmenorrhea, Splenomegaly, Limb-girdle muscle weakness, R... |
ORPHA:79240 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:618512 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Flexion contracture, Osteoporosis, Optic atrophy, Cerebral atrophy, Large ear... |
OMIM:615851 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Posteriorly rotated ears, Cryptorchidism, Pyloric stenosis, Prominent ear helix, Flex... |
OMIM:614438 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Abnormal pinna morphology, Recurr... |
OMIM:309583 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Anemia, Hepatomegaly |
ORPHA:100025 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Underfolded helix, Kyphoscoliosis,... |
OMIM:268400 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I... |
OMIM:560000 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
Satoyoshi Syndrome |
|
Alopecia, Osteolytic defects of the phalanges of the hand, Skeletal muscle hypertrophy, Hypoplasi... |
OMIM:600705 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Abnormal hair quantity, Osteomyelitis, Abnormal fingernail morpholog... |
ORPHA:2796 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ... |
OMIM:609136 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow |
ORPHA:2429 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, High, narrow... |
ORPHA:536516 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, C... |
OMIM:300280 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Short neck, Weight loss, Joint hyperflexibility, Hernia, Atrial septal defect, Hype... |
ORPHA:1842 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os... |
ORPHA:955 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal... |
ORPHA:93160 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia |
OMIM:164180 |
Pseudopseudohypoparathyroidism |
|
Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Enamel hypoplasia |
OMIM:612463 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone sti... |
ORPHA:488632 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Menkes Disease |
|
Joint laxity, Alopecia, Brittle hair, Osteoporosis, Hypsarrhythmia, Sparse hair, Hypopigmentation... |
OMIM:309400 |
Christianson Syndrome |
|
Cerebellar atrophy, Decreased muscle mass, Cachexia, Joint hyperflexibility, Gastroesophageal ref... |
ORPHA:85278 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Platyspon... |
OMIM:208230 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness |
ORPHA:1216 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Failure to thrive, Facial palsy, Absent eyelashes, Hypogonadism, Sparse... |
ORPHA:2316 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Flexion contracture, Obesity, Hypogonadis... |
OMIM:615547 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Abnormal form of the ver... |
ORPHA:2067 |
Idiopathic Achalasia |
|
Weight loss, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Lym... |
OMIM:618935 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Low anterior hairline, High palate, Wrist flexion contractur... |
ORPHA:800 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Lymphadenopathy... |
ORPHA:160 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Exter... |
ORPHA:2671 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Sneddon Syndrome |
|
Lymphopenia |
OMIM:182410 |
Pseudohypoparathyroidism, Type Ia |
|
Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hor... |
OMIM:103580 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced b... |
ORPHA:970 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Cerebellar atrophy, Optic atrophy, Osteoporosis, EEG abnormality |
ORPHA:529665 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic lab... |
OMIM:609128 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Synop... |
OMIM:619260 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Cerebellar atrophy, Large for gestational age, Patent ductus arteriosus, Osteoporosis... |
OMIM:615398 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate, Weight loss |
ORPHA:141152 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis, Muscular dystrophy |
OMIM:204730 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Hypospadias, Failure to thrive in infancy, Optic nerve hypoplasia, Bila... |
OMIM:618156 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Kyphosis, Sensorineural hearing impairment, Coarse hair, J... |
ORPHA:1883 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive |
ORPHA:99931 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contr... |
OMIM:606631 |
Alstrom Syndrome |
|
Hepatomegaly, Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stim... |
OMIM:203800 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Pseudohypoparathyroidism, Type Ic |
|
Short neck, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudoh... |
OMIM:612462 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Cryptorchidism, Scoliosis, Reduced bone mineral density |
ORPHA:466926 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Ventricular septal defect, Cryptorchidism, Lipoma, Subvalvular aortic stenosis, Atrial ... |
OMIM:613001 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair |
ORPHA:69735 |
X Small Rings |
|
Joint laxity, Premature ovarian insufficiency, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:96201 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,... |
ORPHA:2221 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia |
OMIM:612379 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Kyphosis, Knee... |
OMIM:313420 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... |
ORPHA:3082 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Coronal craniosynostosis |
ORPHA:228390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Absent brainstem auditory responses, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased serum serot... |
ORPHA:100083 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Oligozoospermia, ... |
ORPHA:85450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Joint laxity, Abnormal pinna morphology, Hypospadias, Cryptorchidis... |
OMIM:300354 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... |
ORPHA:289548 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Limited elbow extension |
OMIM:180870 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, B... |
ORPHA:2848 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cachexia, Ovarian neoplasm, Weight l... |
ORPHA:83469 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... |
ORPHA:2890 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Short neck, Kyphosis, Splenomegaly, Narrow palate, Macroglossia, Arthr... |
ORPHA:61 |
Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Generalized hirsutism, Hyperlordo... |
ORPHA:354 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Spinal canal stenosis, Obesity, Cong... |
OMIM:614613 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Joint stiffne... |
OMIM:253010 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... |
ORPHA:2198 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased susceptibility to... |
ORPHA:2788 |
Johanson-Blizzard Syndrome |
|
Alopecia, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal hair pattern, Diabetes mellitu... |
ORPHA:2315 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... |
OMIM:607823 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... |
ORPHA:2078 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Craniosynostosis, Absent ey... |
ORPHA:166035 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Decreased testicular size, Cryptorchidism, Patchy alopecia, Camptodactyly of finger |
ORPHA:85279 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... |
OMIM:277580 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia |
ORPHA:54028 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern, Short neck, Cachexia, Kyphos... |
ORPHA:85293 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Cerebral cortical atrophy, Weight loss |
ORPHA:98934 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Cockayne Syndrome B |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Sparse ... |
OMIM:133540 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Hyperhidrosis, Premature graying ... |
OMIM:305000 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Rhyns Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Sensorineural hearing impairme... |
OMIM:602152 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchi... |
ORPHA:217346 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... |
OMIM:602541 |
Satoyoshi Syndrome |
|
Hyperlordosis, Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus... |
ORPHA:3130 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Alopecia, Menorrhagia, Increased mean platelet volume |
OMIM:617443 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Generalized amyotrophy, Se... |
OMIM:619423 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Flexion contracture, Knee flexion contracture, Reduced bone min... |
ORPHA:2614 |
Aredyld Syndrome |
|
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... |
ORPHA:1133 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Highly arched eyebrow, Kyphosis, Low-set ears, Scoliosis, Arthrogrypos... |
OMIM:615834 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Limitation of joint mobility, Epiphyseal stippling, Scoliosis, Spina bifida occulta, Sp... |
ORPHA:177 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Atr... |
OMIM:245600 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Posteriorly rotated ears, Facial hypotonia, Cachexia, Short neck, Fa... |
OMIM:616801 |
Clark-Baraitser syndrome |
|
Joint laxity, Kyphosis, Obesity, Scoliosis, Macroorchidism |
OMIM:300602 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
OMIM:616100 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Camptodactyly of finger, Joint... |
ORPHA:628 |
Degcags Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficie... |
OMIM:619488 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the tympanic membrane, Abnormality of the auditory canal, Joint stiffness, Limitat... |
ORPHA:66627 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia, Joint stiffness |
ORPHA:1144 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Centrally nucleated skeletal muscle fibe... |
OMIM:248800 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Thin bony cortex, Interphalangeal joint contracture of finger, Kypho... |
OMIM:259600 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... |
ORPHA:263297 |
Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Scoliosis |
OMIM:300337 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Keloids, Cryptorchidism, Torticollis, Oligozoospermia |
OMIM:314300 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... |
OMIM:600785 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join... |
ORPHA:1159 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Short neck, Reduced bone mineral density, Pulmonic stenosi... |
OMIM:615279 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Small scrotum, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis,... |
ORPHA:3253 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia, Decreased nerve conduction velocity, Sensorineural hearing imp... |
ORPHA:1933 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta... |
OMIM:614837 |
Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Failure to thrive, Osteoporosis, Steatorrhea |
OMIM:266510 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C... |
ORPHA:2311 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Lymphadenopathy, Decreased eosino... |
ORPHA:2686 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Sensorineural hearing ... |
OMIM:239000 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... |
ORPHA:3440 |
Baralle-Macken Syndrome |
|
High, narrow palate, Kyphosis, Obesity, Global brain atrophy, Cafe-au-lait spot, Hirsutism |
OMIM:619255 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scolio... |
OMIM:610743 |
Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Hypogonadism, Generalized amyotrophy, Elevated circulating foll... |
OMIM:602668 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, H... |
OMIM:617523 |
Desbuquois Dysplasia 1 |
|
Joint laxity, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific... |
OMIM:251450 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Craniosynostosis, Short neck, Precocious puberty, Kyphosi... |
ORPHA:254346 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology, Generalized amyotrophy |
ORPHA:275872 |
Xp21 Deletion Syndrome |
|
Joint laxity, Decreased muscle mass, Hypogonadotropic hypogonadism, Primary adrenal insufficiency... |
ORPHA:261476 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Ventral hernia, Alopecia, Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kypho... |
ORPHA:536532 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Hypoplastic sacrum, Diabetes mellitus, Small for gestational age, Oligozoospermia, Cl... |
OMIM:614813 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D... |
ORPHA:1882 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic anemia, Cholelithi... |
OMIM:611881 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... |
OMIM:130060 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... |
ORPHA:2884 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis,... |
OMIM:615761 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Insulin-resistant diabetes mellitus, Weight loss, Increased circulating ant... |
ORPHA:411593 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Abnormal pinna mo... |
ORPHA:1900 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy, Failure to thrive, Decreased testicular size, Anemia |
OMIM:620040 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia |
ORPHA:90308 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis,... |
ORPHA:98848 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis |
OMIM:616000 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Highly arched eyebrow, Microcytic anemia, Cryptorchidism, Insulin-... |
ORPHA:293967 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Synophrys, Multifocal epileptiform discharges, Scoliosis |
ORPHA:505652 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis,... |
ORPHA:39041 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Brittle Cornea Syndrome |
|
Sensorineural hearing impairment, Osteoporosis, Abnormality of hair pigmentation, Cleft palate, I... |
ORPHA:90354 |
Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Osteoporosis, Coronal cleft vertebrae, Platyspondyly, Delayed ossifica... |
OMIM:184260 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... |
ORPHA:2114 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... |
OMIM:231070 |
Cystic Echinococcosis |
|
Hepatomegaly, Eosinophilia, Abnormality of the testis size, Bone cyst, Abnormal heart morphology,... |
ORPHA:400 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... |
OMIM:193510 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Myositis, Hyperthyroidism, Osteomyelitis, Autoimmune throm... |
ORPHA:37042 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Hepatomegaly, Splenomegaly, Loss of eyela... |
OMIM:263700 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Scarring |
ORPHA:346 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Leukocytosis, O... |
ORPHA:96253 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Abnormal lymphocyte morphology, Abnormality of the nail |
ORPHA:2584 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Limb-girdle muscle weakness, Sensorineura... |
ORPHA:1215 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia |
OMIM:530000 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Kyphosis, Cerebral atrophy, Infertility, Scoliosis, Limb muscle weakness, Low... |
OMIM:614409 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Partial albinism, Synophrys, Se... |
OMIM:148820 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron deficien... |
ORPHA:1667 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal heart valve morphology, Hypospadias, Highly arched eyebrow, Congenital di... |
ORPHA:280 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... |
ORPHA:3143 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Decreased activity of mitochondrial respiratory chain, Hypochromic mic... |
OMIM:619147 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasi... |
OMIM:240300 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic... |
OMIM:304790 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal testis morphology, Anemia, Weight loss |
ORPHA:54251 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Trisomy 20P |
|
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Protruding ear, Reduced... |
ORPHA:261318 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis |
OMIM:614898 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... |
OMIM:259420 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, S... |
ORPHA:47612 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Obesity, Weight loss, H... |
ORPHA:251071 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Facial myokymia |
OMIM:620007 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size |
OMIM:615433 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Eosinophilia, Spinal canal stenosis, Pulmonic stenosis, Atrial septal de... |
OMIM:618282 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Cerebellar vermis atro... |
OMIM:617988 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ... |
OMIM:618186 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebr... |
OMIM:252920 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Congenital foot contractures... |
OMIM:314580 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia |
OMIM:612073 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Short neck, Joint stiffness, Kyph... |
OMIM:230500 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Atrial se... |
ORPHA:536471 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Cerebellar atrophy, Abnormality of the vertebral spinous processes, Optic disc pallor... |
ORPHA:909 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:79238 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior b... |
OMIM:230650 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia |
OMIM:251110 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Cleidocranial Dysplasia |
|
Recurrent fractures, High, narrow palate, Abnormal sacrum morphology, Hearing abnormality, Osteop... |
ORPHA:1452 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Failure to thrive, Intestinal malrotation, Congenital diaphragmatic h... |
OMIM:609029 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Osteopenia, Lipodystrophy, Loss of subcuta... |
OMIM:248370 |
Eosinophilic Fasciitis |
|
Myositis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss, Arthritis, Cellul... |
ORPHA:3165 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hy... |
ORPHA:177910 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... |
ORPHA:324964 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Apl... |
ORPHA:221008 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Decreased muscle mass,... |
ORPHA:813 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Arthritis, Abnorma... |
ORPHA:3287 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Obesity, Membranous subvalvular aortic stenosis, Type II d... |
ORPHA:3191 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Alopecia, Sparse eyelashes, Sparse scalp hair, Inguinal hernia, La... |
ORPHA:544488 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, High palate, Osteoporosis, Peripapillary atrophy, Scolio... |
ORPHA:536467 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Secun... |
OMIM:619951 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Pulmonic stenosis, Camptodactyly, ... |
OMIM:619123 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hypos... |
OMIM:169400 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Typical Nemaline Myopathy |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Limb-girdle muscle weakness, ... |
ORPHA:171436 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Hyperthyroidism, Diabetes mellitus, Facial palsy, Hearing impairment, Quadric... |
ORPHA:254892 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... |
OMIM:259050 |
Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Short neck, Sparse eyebrow, Kyphosis, Cryptorchidism, Low posterior... |
OMIM:619745 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Secundum atrial septal defect... |
OMIM:300855 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell ... |
ORPHA:276 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Hypermelanotic ma... |
ORPHA:90321 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Osteopenia, Failure to thrive, Impaired lymphocyte transformat... |
ORPHA:79329 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Ventricular septal defect, Abnormality of the anterior pituitary, Coarse ... |
ORPHA:75389 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, EEG with abnormally slow frequencies, Abnormal reproductive system morp... |
ORPHA:70472 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... |
OMIM:137940 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ... |
ORPHA:397744 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Distal amyotrophy, Hypogonadism, Oligomenorrhea, Infertility, Type II diabetes mellitus... |
ORPHA:412057 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Vertigo, Sensorineural hearing impairment, Leukocytosis,... |
ORPHA:3226 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Thrombocyt... |
OMIM:209950 |
Kury-Isidor Syndrome |
|
Alopecia, Sacral dimple, Ventricular septal defect, Short neck, Scoliosis, Hypertrichosis |
OMIM:619762 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphys... |
ORPHA:3121 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Sparse eyelashes, A... |
ORPHA:2909 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Bicuspid aortic valve, Ventricular sept... |
OMIM:130720 |
Stuve-Wiedemann Syndrome 1 |
|
Ovoid vertebral bodies, Short neck, Elbow flexion contracture, Osteoporosis, Pathologic fracture,... |
OMIM:601559 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Decreased activity of mitochondrial complex IV, Cachexia, Weight loss |
OMIM:612075 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Recurrent fractures, Thrombocytopenia, Splenomegaly, Osteoporosis, Fine ... |
OMIM:222700 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Neoplasm of the pancreas, Metrorrhagi... |
ORPHA:370348 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fusion, Ectopic o... |
OMIM:135100 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Neu... |
OMIM:557000 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Hyperlordosis, Short neck,... |
ORPHA:2789 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomeg... |
ORPHA:1328 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle... |
ORPHA:90646 |
Mycetoma |
|
Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal form of the vertebral bodies, Painles... |
ORPHA:2583 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Anemia, Pro... |
OMIM:175500 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Sacral dimple, Inguinal hernia, Ventricular septal defect, Hypospadias, Cryptorchidism, Dilatatio... |
ORPHA:459070 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contracture, Bone cyst, O... |
ORPHA:3042 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum... |
ORPHA:64755 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Male pseudohermaphroditis... |
ORPHA:2075 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Optic atrophy, Scoliosis, Cere... |
ORPHA:702 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Dis... |
ORPHA:3208 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Tendon xanthomatosis, Osteoporosis, Cerebral atrophy, Pseu... |
OMIM:213700 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, ... |
ORPHA:77259 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis |
OMIM:176670 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... |
ORPHA:3322 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Decrea... |
ORPHA:506 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Harrod Syndrome |
|
Hypospadias, Cryptorchidism, Kyphosis, Hypopigmented skin patches, Protruding ear, Joint hyperfle... |
ORPHA:2115 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Facial ... |
OMIM:259720 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Monosomy 22 |
|
Aplasia of the thymus, Short neck, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
Tetrasomy 12P |
|
Cachexia, Short neck, Abnormal soft palate morphology, Sparse eyebrow, Hypohidrosis, Joint hyperf... |
ORPHA:884 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Limited wrist extension, Kyphosis, Pr... |
OMIM:108145 |
Cockayne Syndrome A |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Sparse ... |
OMIM:216400 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, M... |
OMIM:607155 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Platyspondyly, Synostosis of carpal b... |
ORPHA:93351 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, High, narro... |
ORPHA:96169 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Puberty and gonadal disorders, Kyphosis, Senso... |
ORPHA:464282 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Dec... |
OMIM:214500 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorc... |
OMIM:248700 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Hearing abnormality, Os... |
OMIM:616507 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Sparse scalp hair, Abnormality of retinal pigmentation, Recurrent fr... |
ORPHA:394 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Long eyelashes, Biconca... |
OMIM:617952 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Hypospadias, Supernumerary nipple, Truncal obesity, Abnormal vertebral morphology |
ORPHA:3224 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Hearing impa... |
ORPHA:65682 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Abnormal heart morphology, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyop... |
OMIM:618250 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Hyperhidrosis, Distal amyotrophy... |
OMIM:609541 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Hypoplasia of the ear cartilage |
ORPHA:66661 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:86893 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo... |
ORPHA:231183 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormality of the vertebral column, Absent extraocular muscles... |
OMIM:109120 |
Trisomy 13 |
|
Abnormal eyelash morphology, High, narrow palate, Kyphosis, Cryptorchidism, Patent ductus arterio... |
ORPHA:3378 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Esophageal stricture, Osteoporosis, Absent isohemagglutinin level, Dec... |
OMIM:615468 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair, Failure to thrive |
ORPHA:50812 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Male hypogonadi... |
ORPHA:90322 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Osteo... |
OMIM:307030 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Osteoporo... |
OMIM:226980 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... |
ORPHA:2269 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Corpus callosum atrophy, Cryptorchidism, Kyphosis, Low ante... |
OMIM:619244 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Joint stiffness, Kyphosis, Hypohidrosis, Abnormal an... |
ORPHA:1005 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Kyphosis, Aplasia/Hypoplasia o... |
ORPHA:2916 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Low-set ears, Generalized hirsutism, ... |
ORPHA:238750 |
Alexander Disease Type I |
|
Cerebellar atrophy, Cachexia, Scoliosis, Dysphagia, Failure to thrive |
ORPHA:363717 |
Primary Intestinal Lymphangiectasia |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Cohen Syndrome |
|
Ventricular septal defect, Thick hair, Failure to thrive in infancy, Abnormal eyelash morphology,... |
ORPHA:193 |
Fanconi Anemia |
|
Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, High palate, Abnormal... |
ORPHA:84 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pulsatile tinnitus, Episodic hyperhidrosis, Paroxysmal vertigo, C... |
ORPHA:94080 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Recurrent fractures, Sensorineural hearing impairment, Elevated circulating th... |
OMIM:601812 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Sacral dimple, Camptodactyly of finger, Recurrent fractures, Flexion contracture, Elb... |
ORPHA:3206 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Craniosynostosis, Large for gestational age, Kyphosis, Flexion contr... |
ORPHA:314588 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosis |
ORPHA:3454 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Adrenoleukodystrophy |
|
Alopecia, Primary adrenal insufficiency, Impotence, Hypogonadism, Lower limb muscle weakness |
OMIM:300100 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Ventricular septal defect, Hypospadias, Congenital diaphragmatic h... |
OMIM:617602 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hepatomegaly, Abnormal mitochondrial shape, Hypospadias, Ragged-red musc... |
ORPHA:17 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Join... |
ORPHA:2510 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Posteriorly rotated ears, Facial palsy, Short neck, Kyphosis, Achilles tendon co... |
OMIM:301041 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Thoracolumbar kyphosis, Flexion contracture, Coarse hair, Anterior beaking of lumbar ... |
OMIM:253220 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Diastasis recti, Flexion contracture, Hypochromic microcytic anemia, Arthrogrypo... |
ORPHA:440713 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia |
ORPHA:1647 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Limitation of joint mobility, Osteoporosis, Optic atrophy, Decreased skull oss... |
ORPHA:99742 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Recurrent fractures, Kyphoscoliosis, Precocious puberty, Hypophosphatemic r... |
OMIM:163200 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian... |
ORPHA:3464 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation,... |
ORPHA:881 |
Dpagt1-Cdg |
|
EEG with generalized slow activity, Flexion contracture, Osteoporosis, Hypertrichosis, Optic atro... |
ORPHA:86309 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Mitral valve pro... |
ORPHA:137834 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Kyphoscoliosis, Supernumerary nipple, Scarring, Leukocytosis... |
OMIM:308300 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Furrowed tongue,... |
OMIM:615108 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital kyphoscoliosis, Kyphoscoliosis, Synophrys, Atlant... |
ORPHA:536545 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Short Syndrome |
|
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, W... |
ORPHA:3163 |
2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Supernumerary nipple, Camptodactyly of finger, Sparse eyebrow, Kyphosis, Optic nerv... |
ORPHA:261349 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Iris hypopigmentation, Vertebral fusion, Cryptorchidism, Patent duc... |
OMIM:610443 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Protruding tongue, Optic atrophy, Reduced bone mineral density, Increased susce... |
ORPHA:561 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Obesity, EEG abnormality, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:411515 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... |
ORPHA:97214 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Anterior beaking of lum... |
ORPHA:349 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Proximal amyotrophy, Spinocerebellar atrophy, Cochlear degeneration, Hearing impai... |
ORPHA:95433 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Na... |
OMIM:605676 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Aplastic anemia, Short neck,... |
OMIM:300514 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Sparse scalp hair, Carpal synostosis, Bicuspid aortic valve, Ovoid vertebral bodies... |
OMIM:271640 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Skeletal muscle atrophy, Anal stenosis, Abnormality of chromosome stabili... |
ORPHA:647 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Patent foramen ovale, Limited shoulder movement, ... |
ORPHA:576 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased circulating ACTH level, Weight ... |
ORPHA:100075 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Abnormal morphology of female internal genitalia, Fine hair |
ORPHA:1839 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Low-set ears, Abnorma... |
ORPHA:2522 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, A... |
ORPHA:221016 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Furrowed tongue,... |
OMIM:615109 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... |
ORPHA:507 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Short neck, Abnormal antihelix morphology, Large earlobe, Low-se... |
ORPHA:1438 |
Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Ventricular septal defect, Keloids, Joint hyperflexibility, Tricuspid v... |
ORPHA:96129 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Abnormal pinna morphology, Intestinal malrotation, Low-set ears |
ORPHA:77300 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... |
OMIM:156530 |
Kallmann Syndrome |
|
Decreased testicular size, Dyspareunia, Hypoplasia of penis, Hypothalamic gonadotropin-releasing ... |
ORPHA:478 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... |
ORPHA:206436 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Sensorineural hearing imp... |
ORPHA:812 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Cerebral cortical atrophy, Weight... |
ORPHA:1164 |
Farber Disease |
|
Skeletal muscle atrophy, Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly,... |
ORPHA:333 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Alopecia, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptoda... |
ORPHA:1507 |
Pituitary Apoplexy |
|
Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen... |
ORPHA:95613 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Furrowed tongue,... |
OMIM:158350 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia, Pineal cyst |
OMIM:618885 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Short neck, Kyphosis, Limitation of joint mobility, Abnormal form of the ... |
ORPHA:3098 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... |
ORPHA:90156 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia |
ORPHA:33226 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline... |
ORPHA:404440 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Decreased plasma total c... |
ORPHA:42 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, High, narrow palate, Sensorin... |
ORPHA:53271 |
Mirage Syndrome |
|
Cryptorchidism, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Decreased testicular size, T... |
OMIM:617053 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Lig4 Syndrome |
|
Abnormality of chromosome stability, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, ... |
ORPHA:99812 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Facial hypotonia, Abnormality of muscle size, Uplifted earlobe, Cryptorchidism, Kyp... |
ORPHA:364028 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Lumbosacral meningocele, Acanthocytosis, Sc... |
OMIM:607330 |
Adams-Oliver Syndrome |
|
Alopecia, Failure to thrive, Abnormal pulmonary valve morphology, Aplastic/hypoplastic toenail, L... |
ORPHA:974 |
Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Papilledema, Intestinal pseudo-obstruction, Hearing impairme... |
OMIM:309900 |
Dietary Iron Overload Disease |
|
Diabetes mellitus, Abnormal thyroid morphology, Esophageal carcinoma, Abnormal pancreas morpholog... |
ORPHA:139507 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Alopecia, Myositis, Pericarditis, Hepatomegaly, Joint stiffness, Splenomegaly, ... |
ORPHA:809 |
3C Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:7 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Ménétrier Disease |
|
Hypochromic microcytic anemia |
ORPHA:2494 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosi... |
OMIM:259770 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Glass Syndrome |
|
Posteriorly rotated ears, Facial hypotonia, Cleft palate, Long eyelashes, High palate, Nail dyspl... |
OMIM:612313 |
Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, Posteriorly rotated ears, Small for gestational age, A... |
ORPHA:171929 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Hepato... |
OMIM:615595 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Cerebellar atrophy, Kyphosis, Limitation of joint mobi... |
ORPHA:79327 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia |
ORPHA:309031 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Nail dystrophy, Nail dysplasia, ... |
OMIM:226600 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Polycythemia, Perimem... |
OMIM:606812 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:143 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypogonado... |
OMIM:241080 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Scoliosis, Red hair, Spondylolisthesis, Hearing impairment |
OMIM:229200 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Sézary Syndrome |
|
Skeletal muscle atrophy, Alopecia, Hepatomegaly, Splenomegaly, Nail dystrophy, Abnormal lymphocyt... |
ORPHA:3162 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ... |
OMIM:614072 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragile nails |
OMIM:226650 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Dysphagia, Cerebellar... |
OMIM:617435 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Abnormal pinna morphology, K... |
OMIM:618291 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy |
OMIM:616881 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia |
OMIM:251100 |
Pfapa Syndrome |
|
Splenomegaly, Arthritis, Weight loss, Malabsorption |
ORPHA:42642 |
Pycnodysostosis |
|
Ridged nail, Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral d... |
ORPHA:763 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Cachexia, Short neck, Elbow flexion contractu... |
ORPHA:371364 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ... |
ORPHA:35173 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Alopecia, Pos... |
ORPHA:2636 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... |
ORPHA:2070 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... |
OMIM:619377 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Joint laxity, Aganglionic megacolon, Failure to thrive in infancy, Hyperlord... |
OMIM:162300 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegal... |
ORPHA:583 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Osteopenia, Scarring, Anisocytosis, Inc... |
ORPHA:79277 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Pre... |
ORPHA:438213 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Anemia, Neutropenia, Lymphope... |
OMIM:242900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Chronic neutropenia, Irregular menstruation, Thyroiditis, Enlarged kidn... |
ORPHA:79259 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Obesity |
OMIM:620195 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Lymphopenia, Neutropenia |
OMIM:616395 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro... |
OMIM:249420 |
Monosomy 18P |
|
Alopecia, Kyphoscoliosis, Short neck, Low posterior hairline, Hypothyroidism |
ORPHA:1598 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Failure to thrive, Pancytopenia, Hypospadias, Hyperpigmented/hypopigmented macules, C... |
OMIM:620331 |
Cdags Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Rectourethral fistul... |
OMIM:603116 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli c... |
OMIM:175200 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia |
OMIM:615816 |
Adrenomyodystrophy |
|
Generalized hyperpigmentation, Primary adrenal insufficiency, Reduced bone mineral density, Myopa... |
ORPHA:977 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia |
ORPHA:247691 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Scapular winging, Kyphosis, Synophrys, Patent ductus arteriosus, Low anterior hair... |
OMIM:617061 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Dilated cardiomyopathy, Osteoporosis, Ir... |
ORPHA:79408 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gl... |
ORPHA:2298 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Senso... |
ORPHA:163746 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia |
OMIM:300972 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Shor... |
OMIM:263650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Flexion contracture, Lower limb h... |
OMIM:300534 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Hepatocellular carcinoma, Decreased nerve con... |
OMIM:277900 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Nail dystrophy, Alopecia totalis, Joint stiffness |
ORPHA:1366 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Joint hypermobility |
OMIM:619131 |
Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Joint ... |
ORPHA:2655 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, EEG abnormality, Gastroesophageal reflux, Scoliosis,... |
OMIM:312750 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Tracheoesophageal fi... |
ORPHA:93941 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Abnormal heart morpholo... |
ORPHA:85443 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Anemia |
OMIM:300755 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... |
OMIM:602535 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Hardikar Syndrome |
|
Cleft soft palate, Thoracolumbar scoliosis, Patent ductus arteriosus, Vertigo, Osteoporosis, Hepa... |
OMIM:301068 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, Hyperhidros... |
ORPHA:1545 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Weight loss |
OMIM:606438 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
Cystic Fibrosis |
|
Osteopenia, Absent vas deferens, Meconium ileus, Malabsorption, Exocrine pancreatic insufficiency... |
ORPHA:586 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Hy... |
ORPHA:365 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... |
ORPHA:666 |
Immunodeficiency 31C |
|
Osteopenia, Skeletal muscle atrophy, Villous atrophy, Diabetes mellitus, Osteomyelitis, Impaired ... |
OMIM:614162 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked... |
ORPHA:99027 |
Occipital Horn Syndrome |
|
Joint laxity, Orthostatic hypotension, Hiatus hernia, Kyphosis, Capitate-hamate fusion, Osteoporo... |
OMIM:304150 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... |
OMIM:608776 |
Cartilage-Hair Hypoplasia |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal bone ossification, Sparse hair, Neutr... |
ORPHA:175 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Cholangiocarcinoma, Abnormal eosinophil morphology, Hepatocellular carcinoma, Celiac ... |
ORPHA:171 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Patent ductus arteriosus, Limitation of joint mobility, Osteoporosis, Osteolytic defe... |
OMIM:259100 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Kyphosis, Sensorineur... |
ORPHA:521426 |
Congenital Disorder Of Deglycosylation 1 |
|
Anhidrosis, Decreased sensory nerve conduction velocity, Facial hypotonia, Oral-pharyngeal dyspha... |
OMIM:615273 |
Stickler Syndrome, Type I |
|
Joint stiffness, Kyphosis, Sensorineural hearing impairment, Submucous cleft hard palate, Osteoar... |
OMIM:108300 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Splenomegaly, Lymphopenia |
OMIM:605309 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Osteomyelitis, Kyphosis, Gastrointestinal dysmotility, A... |
ORPHA:88628 |
Wolman Disease |
|
Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adrenal ... |
ORPHA:75233 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, P... |
ORPHA:97289 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Ky... |
ORPHA:582 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Kyphosis, Synophrys, Sensorineural hearing impairment, Abnormal form o... |
ORPHA:3219 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocy... |
ORPHA:520 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Short neck, Oral-pharyngeal dysphagia, High, narrow palate, Synophrys, Prominent prot... |
OMIM:300966 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstru... |
OMIM:607459 |
Richards-Rundle Syndrome |
|
Hypergonadotropic hypogonadism, Joint stiffness, Reduced bone mineral density, Distal amyotrophy,... |
ORPHA:1399 |
Reni Syndrome |
|
Cryptorchidism, Lymphopenia |
OMIM:617575 |
Occipital Horn Syndrome |
|
Osteopenia, Thick hair, Osteomalacia, Hiatus hernia, High, narrow palate, Kyphosis, Osteoporosis,... |
ORPHA:198 |
Giant Cell Arteritis |
|
Alopecia, Diabetes insipidus, Joint stiffness, Vertigo, Optic atrophy, Hyperhidrosis, Weight loss... |
ORPHA:397 |
Hepatoerythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Osteopenia, Scarring, Scarring alopecia of scalp, Spleno... |
ORPHA:95159 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Joint stiffness, Kyphosis, Sc... |
ORPHA:816 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Defective DNA repair afte... |
OMIM:610965 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyr... |
ORPHA:99879 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Cro... |
OMIM:266600 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Kyphosis, Optic atrophy, Congenital hypothyroidism, Contractures of the... |
OMIM:617527 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Furrowed tongue, W... |
ORPHA:37 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormalit... |
ORPHA:391487 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Weight loss, Degeneration of the st... |
ORPHA:399 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cachexia, Upper-limb joint contracture, D... |
ORPHA:300605 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Joint stiffness, S... |
OMIM:607015 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Neuromuscula... |
ORPHA:206443 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss |
ORPHA:248111 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut... |
OMIM:615387 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa... |
ORPHA:2108 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Kyphosis, Sensorineur... |
OMIM:211530 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia |
OMIM:618372 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, M... |
ORPHA:847 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Abnormal muscle fiber morphology, Dilated cardiomyopathy, Weight loss... |
ORPHA:732 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Thymoma, Iron deficiency anem... |
OMIM:269200 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogo... |
OMIM:212065 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormal hair morphology, Osteolysis, Generalized lipodystrophy, Nail dystr... |
ORPHA:90154 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Arthritis, Erectile dy... |
ORPHA:3452 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Posteriorly rotated ears... |
ORPHA:2215 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of hair, Protruding tongue, EEG with abnormall... |
ORPHA:98794 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Kyphosis, Cryptorchidism... |
OMIM:619005 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Abnormal large int... |
ORPHA:109 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... |
ORPHA:1830 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Alopecia, Obesity, Abnormal granulocyte morphology, Cardiomyopathy, Shoulder girdle... |
ORPHA:98907 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Mend Syndrome |
|
Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Spotty hypopigmenta... |
ORPHA:401973 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy... |
ORPHA:3261 |
Bartsocas-Papas Syndrome |
|
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Hypoplastic male external gen... |
ORPHA:1234 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... |
OMIM:603041 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia, Enlarged k... |
OMIM:618272 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct pro... |
OMIM:607626 |
Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abn... |
ORPHA:3344 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Cerebral atrophy, EEG abnormality, Dysphagia, Limb hypertonia |
ORPHA:500180 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620005 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Abnormal form of the vertebral bodies... |
ORPHA:3107 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Sensorineural hearing impa... |
OMIM:613266 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Weight loss, Increased susceptibility to fractures, Pigmentary retinopathy, Dy... |
ORPHA:216866 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Fine hair... |
OMIM:129400 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Short neck, Joint stiffness, Hypoplasia of the odontoid process, K... |
OMIM:607014 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity, Cerebra... |
OMIM:618443 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Weight loss |
ORPHA:69077 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Abnormal pericardiu... |
ORPHA:35687 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Microcytic anemia, Cardiomegaly, Adipose tissue loss, Flexion contractur... |
OMIM:256040 |
3M Syndrome |
|
Scapular winging, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Incr... |
ORPHA:2616 |
Achondroplasia |
|
Lumbar hyperlordosis, Hearing impairment, Hip joint hypermobility, Kyphosis, Spinal canal stenosi... |
ORPHA:15 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later... |
OMIM:614564 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosi... |
ORPHA:824 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Elevated circulat... |
ORPHA:97283 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hyp... |
OMIM:618541 |
Focal Dermal Hypoplasia |
|
Omphalocele, Alopecia, Inguinal hernia, Ventricular septal defect, Diastasis recti, Congenital di... |
ORPHA:2092 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... |
OMIM:210900 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Abnor... |
ORPHA:904 |
Brucellosis |
|
Knee osteoarthritis, Leukopenia, Hepatomegaly, Leukocytosis, Epididymitis, Anemia, Hypersplenism,... |
ORPHA:1304 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Ventricular septal defect, Microcytic anemia, T... |
OMIM:619525 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... |
ORPHA:293978 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Increased circulating IgA level, Celiac disease, Abnormality of the thyr... |
ORPHA:186 |
Vici Syndrome |
|
Albinism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, De... |
OMIM:242840 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Alopecia, Sparse eyelashes |
OMIM:616367 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Kyphosis, Sensorineural hearing impairment, Protruding ear, Joint hyperflexibility, E... |
ORPHA:2479 |
Trisomy 9P |
|
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Protruding ear, Fingernail dysplasia, ... |
ORPHA:236 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex c... |
OMIM:617143 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Multiple joint contractures, Nail dystrophy |
ORPHA:100976 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Hypogonadism, Scoliosis, Micropenis, F... |
ORPHA:500055 |
Piebald Trait |
|
Aganglionic megacolon, Partial albinism, Absent pigmentation of the ventral chest, Abnormality of... |
OMIM:172800 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Cachexia, Dysphagia |
OMIM:618093 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Aganglionic megacolon, Low anterior hairline, Obesity |
ORPHA:261222 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia, Scarring |
OMIM:247100 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia |
ORPHA:71273 |
Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Epispadias, Hyperconvex fingernails, Elbow ankylosis, Abnormal penis... |
ORPHA:2658 |
Ramon Syndrome |
|
Optic disc pallor, Enlarged labia minora, Kyphosis, Hypertrichosis, Narrow palate, Pigmentary ret... |
OMIM:266270 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Bilateral cryptorchidism, F... |
OMIM:613451 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Hashimoto thyroiditis, Weight loss, Hydrocele testis, Retrograd... |
ORPHA:49041 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Camptodactyly of fi... |
ORPHA:464 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Op... |
OMIM:618476 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive |
OMIM:610768 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Limb hypertonia |
OMIM:614219 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Osteolysis, Weight loss, Hyperhidrosis, Bone marrow hypocellularity |
ORPHA:391 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Ear pain, Odynophagia, Cranial nerve compression, Weight loss, Abnorma... |
ORPHA:221098 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious pube... |
ORPHA:58 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Neutrophilia, Anemia, Microcytic anemia |
ORPHA:99843 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Inguinal h... |
ORPHA:558 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short neck, Hypoplastic toen... |
ORPHA:251014 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hyp... |
ORPHA:95409 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Macroglossia, Scoliosis, Dysphagia, Achalasia |
ORPHA:79107 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific... |
ORPHA:93314 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Failure to thrive, Abnormality of the nail |
ORPHA:79394 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature,... |
ORPHA:2020 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Joint hyperflexibility, Platysp... |
ORPHA:93274 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:128100 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:99880 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Brain abscess, Liver abscess |
ORPHA:2038 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, EEG abnormality, Cerebral cortical atrophy, Weight loss |
ORPHA:157941 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Thin nail, Diastasis recti, Kyphosis, Cryptorchidism, Limited kn... |
OMIM:277590 |
Syndromic Diarrhea |
|
Lymphopenia, Villous atrophy, Brittle hair, Gastritis, Hypopigmentation of hair, Small for gestat... |
ORPHA:84064 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... |
ORPHA:85451 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Small for gestational age, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossificatio... |
ORPHA:93360 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Craniosynostosis |
OMIM:601853 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint stiffness, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Synovitis, Hepatosplen... |
ORPHA:85408 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Poland Syndrome |
|
Diabetes mellitus, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyphos... |
ORPHA:2911 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, External genital hypoplasia, Thin nail, Abnormal hair morphology, Small nail |
OMIM:242100 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:545 |
Keutel Syndrome |
|
Alopecia, Ventricular septal defect |
ORPHA:85202 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Recurrent fractures, Tarsal... |
ORPHA:565 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Weight loss, Iron deficiency anemia, Small intestine carcinoid, Increased ser... |
ORPHA:100078 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Vaginal dryness, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal def... |
OMIM:106260 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Limitation of movement at a... |
ORPHA:740 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Focal Myositis |
|
Myositis, Limitation of joint mobility, Weight loss |
ORPHA:48918 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Alveolar Echinococcosis |
|
Low back pain, Eosinophilia, Abnormal pericardium morphology, Pancreatic cysts, Bone cyst, Abnorm... |
ORPHA:284 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma, Scoliosi... |
ORPHA:2874 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... |
OMIM:603903 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Weight loss, Anaplastic thyroid c... |
ORPHA:142 |
Solitary Fibrous Tumor |
|
Low back pain, Vaginal neoplasm, Weight loss, Prostate cancer, Hypophosphatemic rickets, Hypoinsu... |
ORPHA:2126 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Weight loss, Abnormal autonomic nervous system physiology, Dysphagia, Neuronal los... |
OMIM:600072 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Hyperthyroidism, Weight loss, Goiter |
OMIM:188580 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Uplifted earlobe, Kyphosis, Cleft palate, Furrowed tongue, Cerebral atrophy, Gastroe... |
OMIM:616449 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Uterine prolapse, Osteoarthritis of the small joints of the hand, Inguinal hernia, ... |
ORPHA:284984 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Alopecia, Scarring, Craniosynostosis, Anemia, Atrophic scars, Nail ... |
ORPHA:79396 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Hypoplastic nipples, Scol... |
OMIM:230740 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Failure to thrive, Abnormal mitochondrial shape, Clitoral hypertrophy |
ORPHA:543470 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscol... |
OMIM:300967 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Craniofacial hyperostosis, Kyphosis... |
ORPHA:192 |
Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Increased circulating IgG4 level, Increased circulating Ig... |
ORPHA:449400 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Gastroesophageal reflux, Conductive hearing impai... |
ORPHA:1606 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Cor pulmonale, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, ... |
OMIM:158310 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Generalized Pustular Psoriasis |
|
Leukocytosis, Lymphopenia |
ORPHA:247353 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Episodic hyper... |
ORPHA:276621 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Central heterochromia, Patchy hypopigmentation of hair, Narrow internal ... |
ORPHA:233 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Leukopenia, Bone m... |
OMIM:615688 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A... |
ORPHA:79076 |
Chanarin-Dorfman Syndrome |
|
Myopathy, Alopecia, Hepatomegaly |
OMIM:275630 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... |
ORPHA:1724 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Myopathy, Hypoplastic finge... |
ORPHA:257 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Absent toenail, Absent fingernail... |
ORPHA:158687 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General... |
OMIM:264090 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Pericardial effusion, Rhabdomyolysis, Gout, Iron def... |
ORPHA:358 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Punctate vertebral calcifications, ... |
OMIM:302960 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Weight loss, Inflammation of the large intestine |
ORPHA:26790 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Micropen... |
OMIM:619321 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Parotitis, Lymphadenopathy, Leukopenia, Normochromic anemia, Decreased proport... |
ORPHA:289390 |
Legionnaires Disease |
|
Splenomegaly, Lymphopenia, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kypho... |
OMIM:616894 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Absent circulating B cells |
OMIM:307200 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Adrenal hypoplasia, Flexion contracture, Epiphyseal stippling, Abnormal cardiac septum ... |
OMIM:308050 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Inguinal hernia, Camptodactyly of finger,... |
ORPHA:2273 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Lymphopenia, Anemia |
OMIM:616541 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, High palate, Scoliosis |
OMIM:300676 |
Schinzel-Giedion Syndrome |
|
Short neck, Anteriorly placed anus, High palate, Hepatoblastoma, Micropenis, Myeloid leukemia, St... |
ORPHA:798 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Esophageal neoplasm, S... |
ORPHA:1018 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Failure to thrive, Nail dystrophy |
OMIM:616353 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Limitation of joint... |
ORPHA:90153 |
Ermine Phenotype |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... |
ORPHA:999 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Failure to thrive, Multiple joint contractures, Hypospadias, Anterior pituitar... |
ORPHA:464306 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Hyperlordosis, External ... |
ORPHA:568 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia, Craniosynostosis, Abnormal earlobe morphology, Joint hyperflexibilit... |
ORPHA:808 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, EEG with focal epileptiform discharges, EEG abnormal... |
ORPHA:98795 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Failure to thrive, Paronychia, Dilated cardiomyopathy, Osteoporosis, Nail dystrophy, En... |
ORPHA:79404 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Obesity, EEG abnormality, Dysphagia, Hypopigmentatio... |
ORPHA:411511 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Slow-growing hair, Short nail, Thin nail, Sagittal craniosynostosis, High, narrow p... |
OMIM:218330 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t... |
ORPHA:2309 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi... |
ORPHA:2774 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia |
ORPHA:48818 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Glucagonoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Acanthocytosis, Incr... |
ORPHA:97280 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Neutropenia, Gout, Inf... |
OMIM:232220 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... |
ORPHA:3453 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Ankylosis, Osteolysis, Sparse hair |
ORPHA:659 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Intestinal obstruction, Eosinophilia, Malabsorption, Hypopigmented skin patches, Weight... |
ORPHA:183 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... |
OMIM:614594 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Cachexia, Abnormality of the thyroi... |
ORPHA:1969 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Sensorineural hearing impairment, Weight loss, Distal amyotrop... |
OMIM:164310 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Upper limb muscle weakness, EEG abnormality, Erec... |
ORPHA:206448 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Failure to thrive, Fragile nails |
OMIM:242150 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
Yao Syndrome |
|
Ventricular hypertrophy, Arthritis, Pericarditis, Weight loss |
OMIM:617321 |
Tetrasomy 9P |
|
Absent gallbladder, Sacral dimple, Myositis, Pericarditis, Dextrocardia, Abnormal dental enamel m... |
ORPHA:3310 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, ... |
OMIM:219800 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Rat-Bite Fever |
|
Back pain, Pericarditis, Parotitis, Myocarditis, Oligoarthritis, Tendonitis, Endocarditis, Weight... |
ORPHA:31205 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Joint stiffness, Kyphosis, Anomalous pulmonary venous return, Radiouln... |
ORPHA:392 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, High, narrow palate, Sensorineural hearing impairment, Hypopigmented sk... |
ORPHA:3214 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cryptorchidism, Sensorineural hearing impairment, Limitation of joint m... |
ORPHA:2719 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel morphology, Weight loss, Cardi... |
ORPHA:79430 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Protruding ear, Macroglossia, Abnormal antihelix morphology, Gastroesophageal reflux, S... |
ORPHA:261144 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Posteriorly rotated ears, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal... |
OMIM:618050 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Joint hypermobility, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Spars... |
OMIM:261990 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... |
ORPHA:440437 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... |
OMIM:182250 |
Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Premature graying of hair, Early onset of sexua... |
OMIM:194050 |
Vipoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:97282 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Hypermelanotic macule, Weig... |
ORPHA:33276 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co... |
OMIM:603387 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Patent ductus arteriosus, Low anterior hairline, Gastroesophageal reflux, Dysphagia, Li... |
OMIM:619909 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... |
ORPHA:958 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo... |
ORPHA:2396 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, EEG with abnormally slow frequencies, Kyphosis, Elbow flexion contracture, Obesi... |
OMIM:618493 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Hypospadias, Small for gestational age, Ankle flexion contr... |
ORPHA:464311 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis |
OMIM:601979 |
Lysinuric Protein Intolerance |
|
Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Osteoporosis, He... |
ORPHA:470 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Microcytic anemia |
ORPHA:774 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Pericarditis, Myositis, Limitation of joint mobility, Weight loss, Cardiomy... |
ORPHA:93672 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Cowden Syndrome |
|
Hamartomatous polyposis, High palate, Abnormality of the uterus, Abnormal penis morphology, Endom... |
ORPHA:201 |
Pyomyositis |
|
Leukocytosis, Weight loss, Testicular teratoma, Myositis |
ORPHA:764 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect |
ORPHA:261190 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Abnormal myocardium morph... |
ORPHA:36426 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Situs inversus totalis, Kyphosis, Mitral valve prolapse,... |
OMIM:609008 |
Wild Type Attr Amyloidosis |
|
Gastrointestinal dysmotility, Weight loss, Abnormal autonomic nervous system physiology, Autonomi... |
ORPHA:330001 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Osteoporosis, Cerebral cortical neurodegeneration, Cerebral atrophy, Bile duc... |
OMIM:203700 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog... |
ORPHA:79102 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Hypermelanotic macule, Rhabdomyosarcoma, Gastrointestinal stroma tumor, Kyphosis, Pre... |
ORPHA:97685 |
Glycogen Storage Disease Ia |
|
Decreased muscle mass, Hepatocellular carcinoma, Osteoporosis, Gout, Delayed puberty, Pancreatitis |
OMIM:232200 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis, Functional abnormality of the gastrointestinal tract, EEG abnormality |
ORPHA:3095 |
Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Alopecia, Cryptorchidism, Hypogonadism, Failure to thrive, Decreased t... |
ORPHA:910 |
Cono-Spondylar Dysplasia |
|
Short nail, Short neck, Kyphosis, Low-set ears, Scoliosis, Failure to thrive |
ORPHA:420794 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis |
OMIM:619208 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated ci... |
ORPHA:1332 |
Polyarteritis Nodosa |
|
Cardiomyopathy, Pericarditis, Weight loss |
ORPHA:767 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal mus... |
ORPHA:2461 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape |
ORPHA:412217 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Synophrys, Bilateral camptodactyly, Protruding ear, Scoliosis, Absent earlobe, Hearing ... |
OMIM:619557 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Inguinal hernia, Failure to thrive, Short nail, Hypoplasia of the m... |
OMIM:278250 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Lipoatrophy, Absent eyelashe... |
ORPHA:363618 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis... |
ORPHA:171876 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Osteomalacia,... |
OMIM:619381 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Atrial septal... |
OMIM:308205 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Tracheomalacia, Short neck, Kyphosis, Ma... |
ORPHA:140 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Episodic hyper... |
ORPHA:29072 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Cachexia, Abnormality of the spleen, Thrombocytopenia, ... |
ORPHA:2072 |
Aspartylglucosaminuria |
|
Joint laxity, Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Macroglossia, Platyspondyly, Spondy... |
OMIM:208400 |
Ataxia-Telangiectasia |
|
Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased proportion o... |
OMIM:208900 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Aplasia/Hypoplasia of the ey... |
ORPHA:238468 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Splenomegaly, Panniculitis, Hepatomegaly |
ORPHA:33577 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Low back pain, Alopecia |
OMIM:600142 |
Q Fever |
|
Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial effusion,... |
ORPHA:781 |
Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
Osteosarcoma |
|
Pathologic fracture, Osteolysis, Weight loss |
ORPHA:668 |
Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastroin... |
ORPHA:29073 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Osteoporosis, Platyspondyly, Progressi... |
OMIM:225400 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functiona... |
ORPHA:1333 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... |
OMIM:177170 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Hip contracture, Posteriorly rotated ears, Supernumerary nipple, Short neck, Pr... |
OMIM:619194 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Joint stiffness, Aortic valve calcif... |
ORPHA:56 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, Lymphopenia, Parotitis |
ORPHA:51636 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer... |
ORPHA:508533 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Leprosy |
|
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Abnormality of the spleen, Loss of eyelashes, ... |
ORPHA:548 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... |
ORPHA:2902 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Myelofibrosis, Splenomegaly, Vertigo, Weight loss, Acute leukemia, T... |
ORPHA:729 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Kyphosis, Tongue nodules, Low-set ears, Bifid tongue, Bifid uvula |
OMIM:258850 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... |
ORPHA:913 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... |
OMIM:610915 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Leukocytosis, Weight loss, Constrictive pericarditis, Anemia |
ORPHA:67 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Hiatus hernia, Precocious puberty, Cryptorchidism, Reduced bone minera... |
OMIM:616682 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased... |
ORPHA:177907 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellit... |
ORPHA:96191 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Kyphosis, Optic atrophy, Knee flexion contracture, Inflammation of the large ... |
OMIM:619708 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... |
OMIM:616914 |
Proteus Syndrome |
|
Decreased muscle mass, Central heterochromia, Neoplasm of the thymus, Abnormal form of the verteb... |
ORPHA:744 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged... |
ORPHA:79078 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platys... |
ORPHA:1860 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Steatorrhea |
ORPHA:3217 |
X-Linked Creatine Transporter Deficiency |
|
Joint hyperflexibility, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Joint hypermobility, Craniosynostosis, Sparse eyebrow, Kyphosis, ... |
OMIM:617140 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Lumbar hyp... |
OMIM:143095 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Hypoplastic toenails, Dextrotransposition of the great arteries, Atrial s... |
OMIM:306955 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Cerebellar atrophy, Posteriorly rotated ears, Hyperlordosis, Sparse eyebrow, Kyphos... |
OMIM:617011 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Thrombocytopenia, Neutropenia... |
ORPHA:537 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Gastroesop... |
OMIM:194190 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphosco... |
ORPHA:457359 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Protruding ear, Gastroesophageal reflux, Chronic otitis media, Low-set, post... |
ORPHA:534 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia, Early balding, Low posterior hairline, Short neck |
ORPHA:261584 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Somatomammotropinoma |
|
Diabetes mellitus, Abnormal fingernail morphology, Dysmenorrhea, Hypogonadotropic hypogonadism, E... |
ORPHA:314769 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Myocarditis, Weight loss, Anemia, Leukopenia, Enlargement o... |
ORPHA:50918 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... |
OMIM:616294 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Congenital contracture, Gastroesophageal reflux, Cryptorchidis... |
ORPHA:191 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Weight loss |
ORPHA:188 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hemolytic anemia, Atrophic gastritis, Pancytopenia, Hematemesis, Thrombocytop... |
OMIM:615846 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Hyperhidrosis |
ORPHA:99868 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morp... |
ORPHA:77293 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Splenomegaly, Esophageal vari... |
ORPHA:131 |
Acromegaly |
|
Diabetes mellitus, Abnormal fingernail morphology, Dysmenorrhea, Hypogonadotropic hypogonadism, E... |
ORPHA:963 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, High palate, Spina bifida occulta, Joint laxity, Clito... |
OMIM:135900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cerebellar atrophy, Hip contracture, Hypospadias, Kyphoscoliosis, Severe generalized osteoporosis... |
OMIM:210730 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic lef... |
OMIM:100300 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormo... |
OMIM:620185 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, High, narrow palate, Kyphosis, Cleft palate, Furr... |
ORPHA:464738 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral ... |
ORPHA:818 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Weight loss |
ORPHA:411703 |
Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... |
OMIM:203500 |
Neurofibromatosis Type 1 |
|
Pheochromocytoma, Neoplasm of the gastrointestinal tract, Heterochromia iridis, Abnormality of th... |
ORPHA:636 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy |
OMIM:618373 |
Systemic Sclerosis |
|
Alopecia, Pericarditis, Osteomyelitis, Nail bed telangiectasia, Myocarditis, Flexion contracture,... |
ORPHA:90291 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Kyphosis, Scoliosis, Atrophy/Degeneration affecting ... |
ORPHA:88644 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp... |
ORPHA:1798 |
Neuroblastoma, Susceptibility To, 1 |
|
Horner syndrome, Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Sensorineural hearing impairment, High palate,... |
OMIM:609944 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Thin fingernail, Hypospadias, Tarsal synostosis, Absent eyelashes, Kyphosis, Clef... |
ORPHA:85199 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Leukocytosis, Dilated cardiomyopathy, Weight loss, Leukopenia, Thrombocytosis, Anemia |
ORPHA:20 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Isotretinoin-Like Syndrome |
|
Lymphopenia |
ORPHA:2306 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Slender build, Cachexia, Kyphosis, Sensorineural hearing impairment, Ost... |
ORPHA:828 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Osteomalacia, Kyphosis, Cryptorchidism, Rickets, Corn... |
OMIM:309000 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Hyperthyroidism, Parotitis, Eosinophilia, Facial palsy, Diabetes insi... |
ORPHA:797 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating growth hormone conce... |
ORPHA:97287 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... |
ORPHA:69085 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Joint stiffness, Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Decreased fertility, Weight loss, Gonadal calcification... |
ORPHA:60025 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Dry hair, Optic disc pallor, Kyphosis, Splenomegaly, Flexion contracture... |
ORPHA:90324 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... |
ORPHA:1855 |
Microsporidiosis |
|
Myositis, Osteomyelitis, Cachexia, Abnormality of the spleen, Myocarditis, Abnormality of the par... |
ORPHA:2552 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test, Central a... |
OMIM:615577 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
Branchiooculofacial Syndrome |
|
Short neck, Premature graying of hair, Gastroesophageal reflux, Conductive hearing impairment, Sp... |
OMIM:113620 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss, Increased serum serotonin, A... |
ORPHA:100080 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Platyspondyly, Uterine leiomyoma, Gastroe... |
OMIM:616482 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Inguinal hernia, Bicuspid aortic valve, Craniosynostosis, Bicuspid pulmonary valve,... |
OMIM:610168 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... |
OMIM:300942 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Weight loss |
ORPHA:168811 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, Cholelithiasis,... |
ORPHA:83617 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies... |
ORPHA:2769 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Joint hyperflexibilit... |
ORPHA:1974 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Sparse hair, Ename... |
OMIM:311200 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Failure to thrive |
OMIM:210210 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Abnormal skin adnexa morphology, Fasciitis, Flexion contracture, Myopath... |
ORPHA:90289 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... |
ORPHA:97261 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Myocarditis, Thyroiditis, Weight loss, Lymphocytosis |
ORPHA:139402 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Abnormality of connective tissue, Rheumatoid arthritis, Failure to thr... |
ORPHA:79128 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Alg12-Cdg |
|
Cryptorchidism, B lymphocytopenia, Thrombocytopenia |
ORPHA:79324 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
OMIM:253270 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic... |
OMIM:223800 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Neoplasm of the liver, Diabetes mellitus, Increased hepatitis B virus antibody level |
ORPHA:90003 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... |
ORPHA:97278 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Vertigo, Weight loss, Hyperhidrosis, Chronic myelogenous le... |
ORPHA:71493 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bifid scrotum, High, narrow palate, Synophrys, Abnormal curvature of the vertebral col... |
OMIM:619475 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Cardiac fibro... |
ORPHA:77301 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Monoclonal elevation of c... |
ORPHA:91139 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Highly arched eyebrow, Kyphosis, Rectal prolapse, Sensor... |
OMIM:303600 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Vertigo, Weight loss, Ga... |
ORPHA:679 |
African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Pericarditis, Abnormality of the menstrual cycle, Abnormality of the endo... |
ORPHA:3385 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join... |
OMIM:617821 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss, Increased serum serotonin, A... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight loss, Increased serum serotonin, A... |
ORPHA:100082 |
Biotinidase Deficiency |
|
Splenomegaly, Alopecia, Hepatomegaly |
OMIM:253260 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Sensorineural hearing impairment, Ragg... |
OMIM:258450 |
Chronic Graft Versus Host Disease |
|
Alopecia, Pancytopenia, Phimosis, Esophageal stricture, Flexion contracture, Xerostomia, Weight l... |
ORPHA:99921 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Enthesitis, Weight loss, Arthritis, Dystrophic fing... |
ORPHA:29207 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Behçet Disease |
|
Myositis, Pericarditis, Orchitis, Splenomegaly, Endocarditis, Weight loss, Arthritis, Abnormal my... |
ORPHA:117 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... |
OMIM:271700 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, I... |
ORPHA:221 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Kyphosis, Synophrys, Scoliosis, Failure to thrive |
ORPHA:476126 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Oromandibular Dystonia |
|
Torticollis, Weight loss, Dysphagia |
ORPHA:93958 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Cryptorchidism, Aortic valve stenosis, Failure to thrive |
OMIM:300960 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Colchicine Poisoning |
|
Alopecia, Myocarditis, Leukocytosis |
ORPHA:31824 |
Viss Syndrome |
|
Generalized joint laxity, Right ventricular dilatation, Atrial septal defect, Patent foramen oval... |
OMIM:619472 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Dysphagia, Cerebral cortical atrophy, Orthostatic hypotension due to autonomic dysfu... |
ORPHA:411602 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Cachexia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, P... |
ORPHA:275761 |
Reynolds Syndrome |
|
Splenomegaly, Lymphopenia |
OMIM:613471 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Optic neuropathy, Splenomegaly, Bone cyst, Enlarg... |
OMIM:181000 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Tarsal synostosis, Abnormal dental enamel morphology, Pancreatic cysts, R... |
ORPHA:2750 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:2050 |
Riddle Syndrome |
|
Weight loss, Decreased circulating total IgM, Arthritis, Chromosomal breakage induced by ionizing... |
ORPHA:420741 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level, Weight loss |
ORPHA:723 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal salivary gland morphology |
ORPHA:31 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Abnormality of the nail, Reduced bone mineral density |
ORPHA:428 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Weight loss, Hepatomegaly |
ORPHA:134 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Protruding ear, EEG abnormality, Gastroesophageal reflux, Scoliosis |
OMIM:613454 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Camptodactyly of... |
OMIM:601803 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Sensorineural hearing impairment, Prostatiti... |
ORPHA:900 |
Fryns-Smeets-Thiry Syndrome |
|
Joint hyperflexibility, Cachexia, Scoliosis |
ORPHA:2058 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Numerous pigmented freckles, Optic atrophy, Cachexia, Hearing impairment |
ORPHA:220295 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Sensorineural hearing impairment,... |
ORPHA:649 |
Choreoacanthocytosis |
|
Caudate atrophy, Protruding tongue, Peroneal muscle atrophy, Splenomegaly, Acanthocytosis, Abnorm... |
ORPHA:2388 |
Postinfectious Vasculitis |
|
Orchitis, Weight loss, Cardiomyopathy, Arthritis, Bacterial endocarditis |
ORPHA:48435 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss |
ORPHA:654 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Lower limb muscle weakness, Weight loss |
OMIM:137440 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Alopecia, Pericarditis, Myocarditis, Limitation of joint mobilit... |
ORPHA:728 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Yellow nails, Kyphosis, Tetralogy of Fallot, Cellulitis, Distichiasis |
OMIM:153400 |
Sotos Syndrome |
|
Flexion contracture, Gastroesophageal reflux, Conductive hearing impairment, Chronic otitis media... |
ORPHA:821 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Lymphadenopathy, L... |
ORPHA:99826 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Vertebral segmentation defect, Adenoma sebaceum |
ORPHA:2612 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Sensorineural hearing impairment, Ragged-red muscle fibers... |
ORPHA:255210 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Clitoral hypoplasia, Absent fingernai... |
OMIM:305600 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Short neck, Primary hypothyr... |
ORPHA:96176 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Corpus callosum atrophy, Kyphosis, Optic atrophy, Lower limb hypertonia, Pont... |
ORPHA:171629 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hearing impairment, High, narrow palate, Kyphosis, Cleft palate, ... |
OMIM:119600 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia |
ORPHA:90363 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Anoperineal fistula, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia universalis |
ORPHA:158668 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Inflammation of the large intestine, Sacroiliac ... |
OMIM:106300 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Inguinal hernia, Abnormal heart valve morphology, Hypospadias, Abnormality of hair text... |
ORPHA:286 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Leukopenia, Arthritis, Thrombocytopenia |
ORPHA:536 |
Caroli Disease |
|
Cholangiocarcinoma, Splenomegaly, Leukocytosis, Esophageal varix, Weight loss, Cholelithiasis |
ORPHA:53035 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Biotinidase Deficiency |
|
Alopecia, Limb muscle weakness |
ORPHA:79241 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Weight loss, Increased serum serotonin, Carcinoid tumor, Neuroendocrine neoplasm |
ORPHA:100085 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis, Mitral valve prolapse |
OMIM:177850 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Fine hair, Multiple lipomas, Patchy alop... |
OMIM:181270 |
Yunis-Varon Syndrome |
|
Anterior concavity of thoracic vertebrae, Protruding ear, High palate, Absent fingernail, Small e... |
OMIM:216340 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Thyroiditis, Endocarditis, Weight l... |
ORPHA:31204 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Kyphosis, Cleft palate, Glossoptosis, Atresia of the external auditory canal, Con... |
ORPHA:1393 |
Behcet Syndrome |
|
Epididymitis, Patchy alopecia, Arthritis, Genital ulcers |
OMIM:109650 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Anemia, Weight loss |
ORPHA:52417 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Granulomatosis, Weight loss |
OMIM:608710 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormality of the anterior pituit... |
ORPHA:449395 |
Klatskin Tumor |
|
Hepatomegaly, Weight loss |
ORPHA:99978 |
Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Weight loss, Increased susceptibility to fractures, Decreased circulating carnitine... |
ORPHA:3337 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fiber... |
ORPHA:254886 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Kyphosis, Gastroesophageal reflux, Scoliosis, Dysphagia, Achalasia,... |
OMIM:619482 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgin... |
OMIM:300106 |
Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal vestibular function, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Atrophy/De... |
ORPHA:70595 |
Spinocerebellar Ataxia With Epilepsy |
|
Myopathy, Optic atrophy, EEG with occipital epileptiform discharges |
ORPHA:254881 |
Recessive Mitochondrial Ataxia Syndrome |
|
Hashimoto thyroiditis, Dysphagia |
ORPHA:94125 |
Alpers-Huttenlocher Syndrome |
|
|
ORPHA:726 |