| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Decreased circ... |
ORPHA:859 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio... |
OMIM:214450 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia, Decreased ... |
OMIM:618165 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Abnormal anterior chamber morphology, Abnormality of... |
ORPHA:42665 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of ... |
ORPHA:1067 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... |
ORPHA:3319 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabe... |
ORPHA:100 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop... |
OMIM:226990 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Impaired platelet aggregation, Reti... |
OMIM:210250 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Microphthalmia, Hypocalcemia, Hypoparathyroidism, Delayed closure of the anter... |
OMIM:127000 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| N Syndrome |
|
Leukemia, Abnormality of chromosome stability, Hypospadias, Cryptorchidism |
OMIM:310465 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... |
OMIM:607685 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Cinca Syndrome |
|
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-react... |
OMIM:607115 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Woolly Hair |
|
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, Telecanthus, White forelock,... |
OMIM:619947 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Ventricular septal defect, Hyposegmentation of neutrophil nuc... |
OMIM:169400 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Keratitis, Arthropathy, Eosinophilia, Thoracolumbar scoliosis, Cra... |
OMIM:618523 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... |
OMIM:617514 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, Telecanthus, White forelock, Premature graying of hair |
OMIM:600193 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Polyarticular arthritis, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic... |
OMIM:617388 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impoten... |
OMIM:235200 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Myh9-Related Disease |
|
Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusion bodies, I... |
ORPHA:182050 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Pituitary resistance to thyroid hormone, Hyperphosphatemia, Decreased response to growt... |
ORPHA:94089 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Omenn Syndrome |
|
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... |
OMIM:603554 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Gonadal dysgenesis, Decreased proportion of CD8-positive T cells... |
OMIM:611926 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Delayed skeletal maturation, Hypocalcemia, Cryptorchidi... |
ORPHA:2323 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... |
OMIM:619707 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Pseudohypoparathyroidism... |
OMIM:612462 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Cataract, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infanc... |
OMIM:618805 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures |
OMIM:146200 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:253600 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Pseudohypoparathyroidism, Short neck, ... |
OMIM:103580 |
| Autoimmune Hypoparathyroidism |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Co... |
ORPHA:36913 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Delayed skeletal maturation, Delayed cranial suture closure, Bilateral microph... |
ORPHA:93325 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis |
ORPHA:2582 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Splenomegaly, Hip contracture, Ventricular septal defect, Noncompactio... |
OMIM:616651 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microcornea, Corneal opacity |
ORPHA:2432 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Sparse eyebrow, Alopecia, Sparse pubic hair, Small nail, Brittle scalp... |
ORPHA:189 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic seiz... |
ORPHA:94090 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Delayed skeletal maturation, Decreased response to grow... |
OMIM:241410 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism |
OMIM:603233 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Decreased circulating antibody level, Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Waardenburg Syndrome, Type 2A |
|
Wide nasal bridge, Premature graying of hair, Partial albinism, White forelock, Numerous pigmente... |
OMIM:193510 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... |
ORPHA:75566 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... |
OMIM:222470 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Toenail dysplasia, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Abnormality of the nail, Sparse body hair, Curly eyelashes, Brittle hair, Curly h... |
OMIM:602400 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Juvenile Temporal Arteritis |
|
Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... |
ORPHA:2070 |
| Winchester Syndrome |
|
Hirsutism, Corneal opacity |
OMIM:277950 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:603909 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Hepatosplenomegaly, Hip contracture, Noncompaction cardiomyopathy, Eos... |
ORPHA:353298 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Shallow acetabular fossae, Giant platelets, Failure to thrive in infancy, Butterfly v... |
OMIM:611209 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Telecanthus, White forelock, Heterochromia... |
ORPHA:895 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Microphthalmia/Coloboma 5 |
|
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:611638 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism |
OMIM:203330 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... |
OMIM:222300 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abnormality of the... |
ORPHA:400 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... |
OMIM:618944 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Immunodeficiency 7 |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... |
OMIM:615387 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Leukem... |
OMIM:210900 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Conjunctival dermolipoma, Corneal... |
OMIM:180550 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Micr... |
ORPHA:858 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Linear Verrucous Nevus Syndrome |
|
Genu recurvatum, Iris coloboma, Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the f... |
ORPHA:2611 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... |
OMIM:608470 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Abnormality of the... |
ORPHA:84064 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-posit... |
OMIM:304790 |
| Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Anophthalmia, Cryptorchidism, Ventricular septal defect, Microphthalmia |
OMIM:615524 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... |
ORPHA:2239 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... |
ORPHA:465508 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Spinal canal stenosis, Epiphyseal stippling, Cryptorchidism, Decreased growth ... |
OMIM:101800 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... |
ORPHA:169079 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles te... |
OMIM:606612 |
| Gombo Syndrome |
|
Abnormal heart morphology, Microphthalmia |
OMIM:233270 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... |
OMIM:612692 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... |
ORPHA:169154 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Splenomegaly, Increa... |
ORPHA:98849 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Abnormal morphology of female internal genitalia, Abnormal femal... |
OMIM:193670 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Omenn Syndrome |
|
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosi... |
ORPHA:39041 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Wide nasal bridge, Keratitis, Downslanted palpebral fissures, Thick eyebrow, Long palpebral fissu... |
OMIM:602562 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Hepatomegaly, ... |
ORPHA:290 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... |
OMIM:619281 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Recurrent fract... |
OMIM:239000 |
| Immunodeficiency 54 |
|
Chromosome breakage, Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adre... |
OMIM:609981 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Icf Syndrome |
|
Abnormality of chromosome stability, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased c... |
ORPHA:2268 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced b... |
OMIM:616435 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Blue Diaper Syndrome |
|
Increased body weight, Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Erythrokeratodermia Variabilis |
|
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... |
ORPHA:317 |
| Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Thrombocytopenia, Abnormal cardiac septum morphology, Camptodactyly, Scoliosis, P... |
OMIM:616737 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis, Weight loss |
ORPHA:2902 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Trisomy 13 |
|
Iris coloboma, Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Cryptorchidism, Ventricula... |
ORPHA:3378 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology, Failure to thrive, Camptodactyly of finger, Short neck, Co... |
ORPHA:1617 |
| Verheij Syndrome |
|
Small for gestational age, Joint hypermobility, Ventricular septal defect, Truncus arteriosus, Sh... |
OMIM:615583 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Abnormal B cell morphology, Cryptorchidism, Agammaglobulinemia, Decreased circulating antibody le... |
OMIM:616910 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Prominent metopic ridge, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
| Microphthalmia/Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia |
OMIM:251505 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperlordosis, Achill... |
OMIM:607155 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology, Weight loss, Arthritis |
ORPHA:3165 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- and hyperpi... |
OMIM:601706 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Pseudohypoparathyroidism Type 1C |
|
Cataract, Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Decre... |
ORPHA:79444 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short nose |
ORPHA:1355 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Pituitary adenoma, Failure to thrive, Hepatitis, Macrocytic anemia, Hyperurice... |
ORPHA:199299 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Optic nerve hypoplasia, Decreased response to growth hormone stimula... |
OMIM:609053 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Abnormality of chromosome stability |
OMIM:600546 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ... |
ORPHA:98813 |
| Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Corneal opacity, Decreased HDL cholesterol concentration, Hepatome... |
ORPHA:79292 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
| Waardenburg-Shah Syndrome |
|
Wide nasal bridge, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, White for... |
ORPHA:897 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas... |
ORPHA:331206 |
| Alveolar Echinococcosis |
|
Abnormal vertebral morphology, Biliary cirrhosis, Cutaneous abscess, Abnormal pericardium morphol... |
ORPHA:284 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Developmental cataract, Micro... |
OMIM:613155 |
| Pseudohypoparathyroidism Type 1A |
|
Cataract, Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Band ... |
ORPHA:79443 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hemiverte... |
ORPHA:77298 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... |
OMIM:602450 |
| Oculomaxillofacial Dysostosis |
|
Wide nasal bridge, Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid morph... |
ORPHA:1794 |
| Fibular Hemimelia |
|
Hypoplastic acetabulae, Limitation of joint mobility, Limited knee flexion/extension, Abnormal he... |
ORPHA:93323 |
| Waardenburg Syndrome Type 1 |
|
Wide nasal bridge, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal ha... |
ORPHA:894 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Failure to thrive, Abnormal lymph node morphology, Decreased proportion of CD8-pos... |
ORPHA:911 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Nail dystrophy, Elevated circulating apoli... |
OMIM:205400 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Osteomyelitis, Joint hypermobility, Eosinophilia, Atrial septal defect, Steril... |
OMIM:618282 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
| Cockayne Syndrome Type 1 |
|
Cataract, Foot joint contracture, Failure to thrive, Anophthalmia, Cryptorchidism, Hepatomegaly, ... |
ORPHA:90321 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Vertebral segmentation defect, Bicuspid aortic valve, Double outlet right... |
OMIM:618845 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash... |
ORPHA:163934 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Cardiomyopathy, ... |
ORPHA:289157 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
| Lig4 Syndrome |
|
Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Leukocytosis, Cryptorchidism, ... |
ORPHA:99812 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Pancytopenia, Crypto... |
OMIM:227650 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ... |
ORPHA:277 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Ankyloblepharon, Alopecia totalis, Sparse or absent eyelashes, Eyelid colobo... |
ORPHA:1234 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Joint contracture of the hand, Ventricular hypertrophy, Cardiomyopath... |
OMIM:300280 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Anophthalmia, Cryptorc... |
ORPHA:899 |
| Limbal Stem Cell Deficiency |
|
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Chromo... |
OMIM:605724 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... |
OMIM:620632 |
| Kbg Syndrome |
|
Persistent open anterior fontanelle, Delayed skeletal maturation, Congenital malformation of the ... |
ORPHA:2332 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Polyarticular arthritis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemoly... |
OMIM:615952 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Prolonge... |
OMIM:600901 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Platyspondyly, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced... |
OMIM:102700 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Osteopetrosis, Thromboc... |
OMIM:615085 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Generalized hirsutism, Abnormality of the tonsils, Corneal opacity, Hepatomegaly |
ORPHA:93476 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytope... |
OMIM:227645 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... |
ORPHA:486 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Joint swelling, H... |
OMIM:612852 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Central posterior corneal opacit... |
OMIM:244600 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microcornea, Thoracic scoliosis, Lumbar scoliosis, Microphthalmia |
OMIM:616171 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ... |
ORPHA:169160 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 |
OMIM:300624 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Short neck, Microphthalmia, Pericardial effusion, Enlarged kidney |
OMIM:613885 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Microphthalmia, Scle... |
ORPHA:139471 |
| Cockayne Syndrome Type 2 |
|
Cryptorchidism, Anophthalmia, Developmental cataract, Hepatomegaly, Conjunctivitis, Flexion contr... |
ORPHA:90322 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Corneal opacity |
ORPHA:2370 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Microphthalmia |
OMIM:164180 |
| Aspergillosis |
|
Keratitis, Abnormality of the vertebral column, Hepatitis, Osteomyelitis, Eosinophilia, Neutropenia |
ORPHA:1163 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Warburg Micro Syndrome 1 |
|
Microcornea, Failure to thrive, Cryptorchidism, Kyphoscoliosis, Joint hypermobility, Developmenta... |
OMIM:600118 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Eosinophilia, Eosinophilic liver infiltration |
OMIM:618999 |
| Pierpont Syndrome |
|
Microcornea, Cryptorchidism, Joint hypermobility, Short neck, Microphthalmia, Scoliosis, Small fo... |
ORPHA:487825 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Hypogonadism, Thrombocytopenia, Micropenis,... |
OMIM:300514 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, External genital hypoplasia, Cryptorchidism |
OMIM:613390 |
| Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Abscess, Joint hypermobility, Eosinophilia, Neutropenia, Scoliosi... |
OMIM:615816 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Kyphoscoliosis, Microphthalmia, Iris coloboma |
OMIM:300915 |
| Hereditary Folate Malabsorption |
|
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Colob... |
OMIM:613153 |
| Incontinentia Pigmenti |
|
Cataract, Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Kypho... |
OMIM:308300 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Lymphoc... |
OMIM:614470 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Cryptorchidism, Joint hypermobi... |
OMIM:610125 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s... |
OMIM:178110 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Cataract, Hypoplasia of the odontoid process, Len... |
ORPHA:485 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se... |
OMIM:113000 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s... |
ORPHA:1867 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia, Hypophosphatemia, Bon... |
ORPHA:89937 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Abnormal circulating lipid concentration, Obesity, Biliary tract abno... |
ORPHA:3191 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Bone marrow hypocellularity, Irregular menstruation, Increased circulating co... |
ORPHA:562 |
| Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemi... |
OMIM:239200 |
| Piebaldism |
|
Wide nasal bridge, Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebro... |
ORPHA:2884 |
| Fanconi Anemia, Complementation Group F |
|
Bone marrow hypocellularity, Microphallus, Decreased response to growth hormone stimulation test,... |
OMIM:603467 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Platyspondyly, Thoracolumbar kyphosis, Lymphopenia, Hepatic cysts, Kyphoscoliosis, Eosinophilia, ... |
OMIM:617425 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
| Cofs Syndrome |
|
Cataract, Camptodactyly of finger, Joint stiffness, Short neck, Microphthalmia, Arthrogryposis mu... |
ORPHA:1466 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Hyperphosphatemia, Conjunctival whitish salt-like deposits, Calcinosis, Hype... |
OMIM:211900 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... |
OMIM:617243 |
| Holoprosencephaly |
|
Iris coloboma, Abnormal form of the vertebral bodies, Chorioretinal coloboma, Failure to thrive i... |
ORPHA:2162 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Anophthalmia, Cryptor... |
OMIM:206900 |
| Fanconi Anemia, Complementation Group S |
|
Anemia, Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma |
OMIM:617883 |
| Pierpont Syndrome |
|
Microcornea, Failure to thrive, Cryptorchidism, Decreased body weight, Short neck, Microphthalmia... |
OMIM:602342 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Ventricular septal defect, Cervical C2/C3 vertebral fusion, ... |
ORPHA:2345 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Abnormality of the cervical spine, Finger joint contracture, Microphthalmi... |
ORPHA:48431 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we... |
ORPHA:340 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... |
OMIM:618394 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Abnormality of the lymphatic ... |
ORPHA:487796 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular p... |
OMIM:227646 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:2528 |
| Foveal Hypoplasia 2 |
|
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia |
OMIM:609218 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Failure to thrive |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Failure to thrive |
OMIM:610247 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... |
ORPHA:93315 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, De... |
ORPHA:508533 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Osteoporosis, Eosinophilia |
OMIM:620532 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutrophilia, Myelop... |
ORPHA:3260 |
| Anophthalmia Plus Syndrome |
|
Iris coloboma, Anophthalmia, Vertebral segmentation defect |
ORPHA:1104 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Increased mean corpuscular vol... |
OMIM:617052 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Microphthalmia With Limb Anomalies |
|
Capitate-hamate fusion, Camptodactyly of 2nd-5th fingers, Failure to thrive, Unilateral cryptorch... |
OMIM:206920 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Small for gestational age, Microphthalmia |
OMIM:278780 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... |
OMIM:209950 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Mi... |
ORPHA:2470 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Hypercalcemia, Calvarial osteosclerosis, Parathyroid hyperplasia |
OMIM:617994 |
| Short Syndrome |
|
Wide nasal bridge, Alopecia, Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil mo... |
ORPHA:3163 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit... |
OMIM:618886 |
| Vogt-Koyanagi-Harada Disease |
|
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... |
ORPHA:3437 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly |
ORPHA:88643 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Bone marrow hypocellularity, Silver-gray hair, Hepatitis, Abnormal circula... |
ORPHA:381 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Megalocornea, Cryptorchidism, Joint hypermobility, Abno... |
ORPHA:915 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... |
OMIM:613702 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Carpal synostosis, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomega... |
OMIM:274000 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
ORPHA:276 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Wormian bones, Eosinophilia, I... |
OMIM:617237 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Failure to thrive, Cervical lymphadenopathy, Lymphocytosis, Lymph... |
OMIM:617718 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:699 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Hyperkalemia, Hyperphosphatemia, Elevated creatine kin... |
ORPHA:423 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Eosinophilia, Lymphocytosis, Weight loss, Lymphadenopathy, Myocarditis |
ORPHA:139402 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
| Incontinentia Pigmenti |
|
Cataract, Keratitis, Camptodactyly of finger, Supernumerary nipple, Eosinophilia, Corneal opacity... |
ORPHA:464 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Joint dislocation, Abnormal form of the vertebral bodies, Osteomalacia, Genu... |
ORPHA:93160 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Upslanted palpebral fi... |
OMIM:152950 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Increased ci... |
OMIM:618495 |
| Harel-Yoon Syndrome |
|
Short nose, Upslanted palpebral fissure, Developmental cataract, Corneal opacity |
OMIM:617183 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Osteomyelitis, Joint hypermobility, Eosinophilia, Craniosynostosis, Scoliosis, Recurr... |
ORPHA:2314 |
| Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Cataract, Small for gestational age, Kyphosis, Failure to thrive, Spondylo... |
OMIM:610443 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Aniridia, Hypocalcemia, Decreased skull ossification, Microphthalmia, Asplenia... |
OMIM:602361 |
| Ring Chromosome 21 Syndrome |
|
Abnormal heart morphology, Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae |
ORPHA:1445 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Mildly elevated creatine kinase, Hypophosphatemic rickets, Elevated circulating c... |
OMIM:619743 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Genu varum, Hypocalcemia |
OMIM:619073 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Eosinophilia, Weight loss, Arthriti... |
ORPHA:183 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Lissencephaly 8 |
|
Microphthalmia, Cataract, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... |
OMIM:618469 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Chromosomal breakag... |
OMIM:620133 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Abnormal eyelid morphology, Lympha... |
ORPHA:2221 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Cataract, Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Opacific... |
OMIM:158310 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Elevated circulating creatine kinase concentration, Coloboma, M... |
OMIM:615249 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Lumbar hyperlordosis, Elevat... |
ORPHA:370959 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis |
ORPHA:313892 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Multilobulated spleen, Bilateral microphthalmos, Tetralogy of Fallot, Cr... |
OMIM:601186 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchi... |
OMIM:214150 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hamartoma of the orbital region, Sparse eyebrow, Cataract, Lacrimal punctal atresia, Telecanthus,... |
ORPHA:2399 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Macroorchidism |
ORPHA:908 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Hypoplastic heart, Increased susceptibility to fractures, Multiple pterygia, V... |
OMIM:312150 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... |
ORPHA:2686 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... |
OMIM:610017 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Cataract, Iris hypopigmentation, Joint hypermobility, Ventricular septal defect, S... |
ORPHA:85194 |
| Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia |
ORPHA:79476 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Failure to thrive, Microphthalmia |
OMIM:274270 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Koolen-De Vries Syndrome |
|
Cataract, Hip dislocation, Cryptorchidism, Joint hypermobility, Vertebral segmentation defect, Bi... |
ORPHA:96169 |
| Waardenburg Syndrome, Type 3 |
|
Wide nasal bridge, Hypopigmented skin patches, Premature graying of hair, Partial albinism, Telec... |
OMIM:148820 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Osteomalacia, Hepatosplenomegaly, Genu valgum, Hypophosphatemic rickets, Hypophosphatemi... |
OMIM:307800 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... |
OMIM:606367 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Osteomyelitis, Decreased... |
OMIM:243700 |
| Granular Corneal Dystrophy Type Ii |
|
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Arthrogryposis multiplex congenita, Microphthalmia |
OMIM:616570 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... |
ORPHA:1806 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma |
OMIM:610023 |
| Cystinosis |
|
Rickets, Failure to thrive, Portal hypertension, Hypokalemia, Hypophosphatemia, Corneal opacity |
ORPHA:213 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Ankyloblepharon, Popliteal pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Enlargement of the wrists, Secondary... |
OMIM:264700 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Microcornea, Delayed skeletal maturation, Increased HbA2 hemoglobin, In... |
OMIM:616943 |
| Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Microphthalmia |
ORPHA:3434 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Cataract, Ventricular septal defect, Decreased skull ossification, Short neck, Mic... |
ORPHA:93267 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Failure to thrive, Microcytic anemia, Coloboma, Microphthalmia |
OMIM:612379 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Microphthalmia, Ventricular septal defect, Joint hypermobility |
OMIM:602501 |
| Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardio... |
OMIM:618652 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Situs inversus totalis, Vertebral segmenta... |
OMIM:613686 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Pe... |
OMIM:612561 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Opacification of the corneal stroma, Nail dystrop... |
OMIM:614594 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating apolipoprotein A-... |
ORPHA:650 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Enlargement of the wrists, Hypocalce... |
OMIM:600081 |
| Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to th... |
OMIM:620609 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Coloboma, Microphthalmia |
OMIM:613094 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... |
OMIM:604229 |
| Neuraminidase Deficiency |
|
Cataract, Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuola... |
OMIM:256550 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:616100 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... |
OMIM:612783 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Parotitis, Low back pain, Abnormality of the cervical spine, Eosinophilia, Pancrea... |
ORPHA:449427 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Hypertrophic ca... |
OMIM:212140 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Lymph node hypoplasia, Agammagl... |
OMIM:300755 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:120433 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Hypoplastic heart, Increased susceptibility to fractures, Multiple pterygia, V... |
OMIM:253290 |
| Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... |
OMIM:248250 |
| Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia, Conjunctivitis |
ORPHA:293173 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Megalocornea, Aniridia, Anophthalmia, Cryptorchidism, Tricuspid valve pr... |
ORPHA:1101 |
| Basal Cell Nevus Syndrome 1 |
|
Iris coloboma, Cataract, Vertebral wedging, Cardiac rhabdomyoma, Ovarian carcinoma, Kyphoscoliosi... |
OMIM:109400 |
| Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
| Fanconi Anemia, Complementation Group P |
|
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism |
OMIM:613951 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Abnormal cornea morphology, Epicanthus, Decreased corneal thickness, Red hair, Kerat... |
OMIM:229200 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical... |
OMIM:214300 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Chronic decreased circulating IgG2, Decreased pr... |
OMIM:615607 |
| Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Corneal opacity |
ORPHA:87876 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Enlargement of the wrists, Hypophosp... |
OMIM:241530 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
OMIM:615297 |
| Multiple Sulfatase Deficiency |
|
Cataract, Coarse hair, Thick eyebrow, Splenomegaly, Abnormality of retinal pigmentation, Corneal ... |
ORPHA:585 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity |
OMIM:620469 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:308230 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Enlargement of the wrists, Secondary... |
OMIM:277440 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:572 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... |
ORPHA:3214 |
| Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anophthalmia, Coloboma, Microphthalmia, Cy... |
OMIM:147250 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cardiomyopathy, Cervical v... |
OMIM:606842 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Larsen Syndrome |
|
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac... |
OMIM:150250 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Astigmatism, Knee flexion contracture, Cubitus valgus, Microphthalmia, Camptodactyly |
OMIM:619694 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Microcornea, Situs inversus totalis, Aplasia/Hypoplasia of the iris, ... |
ORPHA:564 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:122600 |
| Waardenburg Syndrome |
|
Wide nasal bridge, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morpho... |
ORPHA:3440 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia, Failure to thrive |
OMIM:616963 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Osteomalacia, Genu valgum, Cryptorchidism, Hypophosphatemia, Microphthalmia, Patella... |
ORPHA:534 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Netherton Syndrome |
|
Hypereosinophilia, Failure to thrive |
OMIM:256500 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Chondrocalcinosis, Hypophosphatemia, Parathyroid adenoma, Generalized osteoporosis, H... |
ORPHA:99879 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Cryptorchidism, Ventricular septal defect, Microphthalmia, Hepatomegaly |
OMIM:613730 |
| Brachyolmia Type 1, Hobaek Type |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:271530 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... |
OMIM:614170 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Hepatic steatosis, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:42 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Anisospondyly, Cataract, Thoracic kyphosis, Delayed patellar ossification, Short n... |
ORPHA:163649 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Recurrent patellar dislocation, ... |
OMIM:615877 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... |
ORPHA:66637 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... |
ORPHA:335 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Decreased retinol-binding protein level, Retroperitoneal fibrosis, Abnormal mesent... |
ORPHA:449395 |
| Sarcoidosis |
|
Cataract, Abnormal lymph node morphology, Parotitis, Leukopenia, Hypercalcemia, Enlargement of pa... |
ORPHA:797 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Anophthalmia, Cryptorchidism, Contracture of the proximal interphalangeal ... |
OMIM:300166 |
| Oculofaciocardiodental Syndrome |
|
Iris coloboma, Cataract, Microcornea, Ectopia lentis, Genu valgum, Flexion contracture of the 4th... |
ORPHA:2712 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Acro-Renal-Ocular Syndrome |
|
Cataract, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Tetral... |
ORPHA:959 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small nail, Downslanted palpebral fissures, Telecanthus, Leukopenia, Astigmatism, Elevated circul... |
OMIM:301056 |
| Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Hypogonadism, Type II diabetes mellitus, Elevated circulating fo... |
OMIM:602668 |
| Vacterl With Hydrocephalus |
|
Microcornea, Absence of the sacrum, Abnormal form of the vertebral bodies, Anophthalmia, Cryptorc... |
ORPHA:3412 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Nail dystrophy, A... |
ORPHA:31150 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Pancy... |
OMIM:614700 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Upslanted palpebral fissure, Short nose, Corneal opacity |
ORPHA:496790 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Kyphoscoliosis, Developmental cataract, Microphthalmia, Small ... |
OMIM:610756 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormality of the vertebral column, Bilateral microphthalmos, Camptodactyly of finger, Elbow fle... |
OMIM:610758 |
| Rere-Related Neurodevelopmental Syndrome |
|
Iris coloboma, Peters anomaly, Chorioretinal coloboma, Abnormal heart morphology, Cryptorchidism,... |
ORPHA:494344 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... |
ORPHA:98957 |
| Trisomy 1Q |
|
Ventricular septal defect, Anophthalmia, Cryptorchidism, Camptodactyly of finger |
ORPHA:261344 |
| Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
| Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
| Sjogren-Larsson Syndrome |
|
Abnormal hair morphology, Abnormality of the nail, Astigmatism, Opacification of the corneal epit... |
OMIM:270200 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Methionine Malabsorption Syndrome |
|
Positive ferric chloride test, Blue irides, White hair |
OMIM:250900 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Lateral Meningocele Syndrome |
|
Sclerosis of skull base, Cryptorchidism, Biconcave vertebral bodies, Joint hypermobility, Ventric... |
OMIM:130720 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Microphthalmia |
ORPHA:209956 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Tetralogy of Fallot, Aplasia/Hypoplasia of the patella, Thrombocytopenia, Patell... |
ORPHA:3320 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Temtamy Syndrome |
|
Chorioretinal coloboma, Joint hypermobility, Microphthalmia, Iris coloboma, Genu varum |
ORPHA:1777 |
| Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Limitation of joint mobility, Megal... |
OMIM:252500 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity |
OMIM:615272 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Hypotriglyceridemia, Failure to thrive, Hypocholes... |
ORPHA:14 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia |
ORPHA:324416 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Hashimoto thyroiditis, Decreased circulating IgG level, Decreased circulating IgA level, Decrease... |
ORPHA:275 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi... |
ORPHA:31824 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmet... |
OMIM:252920 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Cataract, Splenomegaly, Corneal opacity |
ORPHA:61 |
| Mosaic Trisomy 9 |
|
Limitation of joint mobility, Elbow dislocation, Camptodactyly of finger, Abnormal heart valve mo... |
ORPHA:99776 |
| Microphthalmia, Isolated 8 |
|
Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Charge Syndrome |
|
Lymphopenia, Unilateral microphthalmos, Anophthalmia, Cryptorchidism, Ventricular septal defect, ... |
OMIM:214800 |
| Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Chromosome breakage, Aplasia of the uterus, Anemia, Chromosomal brea... |
OMIM:614083 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... |
ORPHA:90650 |
| Myhre Syndrome |
|
Platyspondyly, Aortic valve stenosis, Cataract, Limitation of joint mobility, Joint stiffness, En... |
OMIM:139210 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Bone pain |
OMIM:193100 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Neutropenia, Microphthalmia, ... |
OMIM:616395 |
| Otopalatodigital Syndrome Type 2 |
|
Cataract, Synostosis of carpal bones, Elbow dislocation, Failure to thrive, Camptodactyly of fing... |
ORPHA:90652 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Astigmatism, Lumbar scoliosis, Ce... |
OMIM:617796 |
| Mietens Syndrome |
|
Wide nasal bridge, Cataract, Microcornea, Corneal opacity, Sclerocornea, Short nose |
ORPHA:2557 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Autoi... |
ORPHA:436159 |
| Microphthalmia/Coloboma 9 |
|
Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Sclerocornea, ... |
OMIM:615145 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pe... |
OMIM:614702 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatine kinase conce... |
OMIM:253800 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Elbow dislocation, Abnormality of the spleen, Anophthalmia, Truncus arteriosus... |
ORPHA:2538 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Coccidioidomycosis |
|
Granuloma, Abnormality of the vertebral column, Abnormality of the spleen, Osteomyelitis, Abnorma... |
ORPHA:228123 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... |
ORPHA:157215 |
| Frontonasal Dysplasia 1 |
|
Cataract, Joint contracture of the hand, Tetralogy of Fallot, Coloboma, Microphthalmia, Camptodac... |
OMIM:136760 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... |
ORPHA:2916 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Astigmatism, Low anterior hairline, Generalized hirsutism, Upper eyelid coloboma, Ab... |
ORPHA:2095 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea, Sparse hair, Fine hair |
OMIM:268320 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... |
ORPHA:83313 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar ... |
OMIM:616549 |
| Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Splenomegaly, Epicanthus, Hepatomegaly, Hypopigmentation of hair, C... |
OMIM:618541 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... |
OMIM:242860 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptoc... |
OMIM:618278 |
| Adams-Oliver Syndrome |
|
Cataract, Failure to thrive, Tetralogy of Fallot, Leukopenia, Abnormal pulmonary valve morphology... |
ORPHA:974 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Hyperprolinemia, Cardiomegaly, Hyperalaninemia, Hepatomegaly |
OMIM:619064 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Corneal op... |
ORPHA:2788 |
| Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contra... |
OMIM:305620 |
| Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
| Congenital Myopathy 8 |
|
Cardiomegaly, Scoliosis |
OMIM:618654 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreati... |
ORPHA:449563 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Failure to thrive, Punctate vertebral calcifications, Stippled calcification in carpal ... |
OMIM:302960 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Microphthalmia, Isolated 5 |
|
Cataract, Microphthalmia |
OMIM:611040 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Decreased testicular size, Decreased circulating IgA level, Anem... |
OMIM:620040 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Short neck, Perimembranous ventricular septal defect, Develop... |
OMIM:618804 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Alkaptonuria |
|
Aortic valve calcification, Limited hip movement, Brown pigmentation of the conjunctiva, Interver... |
OMIM:203500 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Failure to thrive, Delayed skeletal maturation, Persistence of hemoglobin F,... |
OMIM:260400 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism, Ventricular septal defect, Atrial septal defect, Overwe... |
OMIM:619769 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Iris coloboma, Cataract, Vertebral wedging, Cryptorchidism, Cardia... |
ORPHA:377 |
| Hydrolethalus |
|
Anophthalmia, Cryptorchidism, Microphthalmia |
ORPHA:2189 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Zellweger Syndrome |
|
Wide nasal bridge, Cataract, Upslanted palpebral fissure, Epicanthus, Posterior embryotoxon, Corn... |
ORPHA:912 |
| Lowry-Maclean Syndrome |
|
Generalized hypertrichosis, Abnormality of the abdominal organs, Megalocornea, Downslanted palpeb... |
ORPHA:2409 |
| Fanconi Anemia |
|
Abnormality of chromosome stability, Abnormality of the uterus, Hypogonadism, Azoospermia, Leukop... |
ORPHA:84 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Eyelid coloboma, Ptosis, Co... |
ORPHA:1647 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma, Obesity, Cryptorchidism, Microphthalmia |
ORPHA:363741 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... |
ORPHA:273 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Cataract, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpa... |
OMIM:272460 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia, Microphthalmia |
OMIM:619981 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic acetabulae, Optic disc coloboma, Lumbar hyperlordosis, Mi... |
OMIM:169550 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, ... |
ORPHA:667 |
| Sialidosis Type 1 |
|
Wide nasal bridge, Cataract, Splenomegaly, Corneal opacity |
ORPHA:812 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Retinal coloboma, Obesity, Cryptorchidism, Microphthalmia |
OMIM:601794 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Lumbar hyperlordosis, Obesity, Cryptorchidism, Joint hypermobility, Mi... |
OMIM:619185 |
| Bresek Syndrome |
|
Iris coloboma, Decreased testicular size, Cryptorchidism, Hemivertebrae, Microphthalmia, Scoliosi... |
ORPHA:85284 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Mulibrey Nanism |
|
Astigmatism, Cardiomegaly, Pericardial constriction, Hepatomegaly, Iris coloboma, Corneal dystrop... |
OMIM:253250 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Downslanted palpebral fissures, Epicanthus, Ptosis, Blepharophim... |
ORPHA:284160 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... |
ORPHA:90362 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Bicuspid aortic valve, Coloboma, Hemivertebr... |
OMIM:619318 |
| Biemond Syndrome Type 2 |
|
Obesity, Coloboma, Microphthalmia |
ORPHA:141333 |
| Cohen Syndrome |
|
Iris coloboma, Failure to thrive in infancy, Obesity, Genu valgum, Cryptorchidism, Mitral valve p... |
ORPHA:193 |
| Cat-Eye Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:195 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ... |
ORPHA:449432 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Angiostrongyliasis |
|
Stiff neck, Hypereosinophilia |
ORPHA:74 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Shoulder dislocation, Cryptorchidism, Mitral valve prolapse, Genera... |
OMIM:618000 |
| Ring Chromosome 10 Syndrome |
|
Short neck, Cachexia, Hypocalcemia, Microphthalmia |
ORPHA:1438 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Delayed skeletal maturation, Persistence of hemoglobin F, Cryptorchi... |
OMIM:620501 |
| Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis |
OMIM:620195 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short nose, Corneal opacity |
OMIM:618961 |
| Christian Syndrome |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic hemivertebrae, Ventricular septal defect, Bicuspid aortic valve, Short neck, Cervical he... |
ORPHA:508498 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Rickets, Failure to thrive, Delayed skeletal matur... |
OMIM:219800 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ocular albinism, Anemia, Corneal opacity, Ectropion, Hypopigment... |
ORPHA:2719 |
| Kapur-Toriello Syndrome |
|
Iris coloboma, Joint contracture of the hand, Cataract, Camptodactyly of finger, Retinal coloboma... |
OMIM:244300 |
| Proteus-Like Syndrome |
|
Genu recurvatum, Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pup... |
ORPHA:2969 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Iris coloboma, Hip dislocation, Small for gestational age, Abnormal form of the... |
OMIM:194190 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Failure to thrive, Chorioretinal coloboma, Cryptorchidism, Bicuspid aortic... |
OMIM:243310 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Cataract, Failure to thrive, Decreased pineal volume, Microphthalmia |
OMIM:301108 |
| Lymphatic Filariasis |
|
Ankle swelling, Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Abnormality of t... |
ORPHA:2035 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Short neck, Bicuspid aortic valve, Atr... |
OMIM:245600 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Anophthalmia, Mitral valv... |
ORPHA:2556 |
| Fucosidosis |
|
Anterior beaking of thoracic vertebrae, Failure to thrive, Cervical platyspondyly, Tortuosity of ... |
OMIM:230000 |
| Cantu Syndrome |
|
Platyspondyly, Congenital hypertrophy of left ventricle, Delayed skeletal maturation, Large for g... |
OMIM:239850 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Microphthalmia, Syndromic 8 |
|
Microcornea, Cryptorchidism, Microphthalmia |
OMIM:601349 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Telecanthus, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets, Failure to thrive, Abnormal hepatic glycogen storage, Increased hepatic glyc... |
ORPHA:2088 |
| Atelis Syndrome 2 |
|
Pulmonic stenosis, Thrombocytopenia, Microphthalmia, Anemia, Supravalvar pulmonary stenosis, Deve... |
OMIM:620185 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Congenital contracture, Peters anomaly, Elevated circulating creatine kinase concentrat... |
OMIM:613150 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Azoospermia, Acute lymphoblasti... |
ORPHA:125 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small scrotum, Decreased circulating IgA level, Cryptorchidism, ... |
OMIM:607143 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Decreased circulating IgA level, External genital hypoplasia, He... |
ORPHA:79330 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive |
OMIM:614096 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Decreased body weight, Coloboma, Osteopetrosis, Microphthalmia, Iris trans... |
OMIM:617306 |
| Facial Clefting, Oblique, 1 |
|
Coloboma, Microphthalmia |
OMIM:600251 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Joint... |
OMIM:618494 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Microphthalmia |
OMIM:267760 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Decreased response to growth hormone stimulation test, Decreased... |
OMIM:615577 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia, Cryptorchidism, Short neck, Flexion contrac... |
ORPHA:98791 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... |
ORPHA:79124 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Rickets, Hypophosphatemic rickets, Parathyroid hyperplasia, Hypophosphatemia... |
OMIM:612089 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
| Mosaic Trisomy 20 |
|
Spinal canal stenosis, Cryptorchidism, Abnormal mitral valve morphology, Vertebral segmentation d... |
ORPHA:1724 |
| Wildervanck Syndrome |
|
Lens subluxation, Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Hepatomegaly |
ORPHA:99931 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Failure to thrive, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Sp... |
OMIM:620376 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... |
OMIM:602782 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Pathologic fracture, Knee flexion contracture, Hip contracture, Hypophosphatemia, Hyp... |
OMIM:156400 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
ORPHA:3469 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Micropenis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Conjunctival icterus, Cardiomegaly... |
ORPHA:57777 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Hepatosplenomegaly, Corneal opacity, Generalized hypertrichosis, Hepatomegaly |
ORPHA:93399 |
| Warburg Micro Syndrome 3 |
|
Cataract, Microcornea, Decreased testicular size, Ankle clonus, Kyphoscoliosis, Developmental cat... |
OMIM:614222 |
| Duane Retraction Syndrome |
|
Microcornea, Abnormal form of the vertebral bodies, Optic disc hypoplasia, Chorioretinal coloboma... |
ORPHA:233 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cataract, Scoliosis |
ORPHA:3137 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Microcornea, Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Ante... |
ORPHA:35173 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Decreased response to growth hormone stimulation test, Large for gestationa... |
OMIM:213980 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules |
OMIM:614072 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Upslanted palpebral fissur... |
OMIM:214110 |
| Refsum Disease |
|
Cataract, Splenomegaly, Cardiomyopathy, Microphthalmia |
ORPHA:773 |
| Hurler Syndrome |
|
Wide nasal bridge, Bilateral ptosis, Hepatosplenomegaly, Splenomegaly, Hirsutism, Hepatomegaly, C... |
OMIM:607014 |
| Chops Syndrome |
|
Cataract, Tracheomalacia, Obesity, Splenomegaly, Cryptorchidism, Ventricular septal defect, Cervi... |
OMIM:616368 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... |
OMIM:263400 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Astigmatism, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
OMIM:617713 |
| Duane-Radial Ray Syndrome |
|
Iris coloboma, Cataract, Optic disc hypoplasia, Shoulder dislocation, Retinal coloboma, Ventricul... |
OMIM:607323 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... |
OMIM:275350 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Cryptorchidism, Astigmatism, Ventricular septal defect, Wormian bones, Atria... |
OMIM:617159 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Hypophosphatem... |
OMIM:300554 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Carpenter Syndrome |
|
Abnormal cornea morphology, Polysplenia, Obesity, Genu valgum, Cryptorchidism, Kyphoscoliosis, Cr... |
ORPHA:65759 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Rickets, Failure to thrive, Osteomalacia, Hyperbilirubine... |
OMIM:227810 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Microphthalmia |
OMIM:251270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Coloboma, Atrial septal defect, Microphthalmia, Camptodactyly, Sco... |
OMIM:611961 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia |
OMIM:300887 |
| Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Decreased... |
OMIM:618213 |
| Jacobsen Syndrome |
|
Microcornea, Annular pancreas, Failure to thrive, Chorioretinal coloboma, Cryptorchidism, Ventric... |
OMIM:147791 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Genu valgum, Hypophosphatemic rickets |
OMIM:618913 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Cryptorchidism, Short neck, Thoracol... |
OMIM:265000 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... |
OMIM:201475 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia |
OMIM:146350 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... |
OMIM:313900 |
| Fucosidosis |
|
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Corneal opacity, A... |
ORPHA:349 |
| Classic Phenylketonuria |
|
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Osteomalacia, Genu valgum, Cryptorchidism, Microphthalmia, Hip dis... |
OMIM:309000 |
| Waardenburg Syndrome, Type 1 |
|
Wide nasal bridge, Premature graying of hair, Partial albinism, Telecanthus, Thick eyebrow, White... |
OMIM:193500 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Aniridia, Obesity, Ventricular septal defect, Camptodactyly of toe, Short neck, Microph... |
ORPHA:251038 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Osteomalacia, Pathologic fracture, Hypercalcemia, Ovarian cyst, Abnormal lumbar spine mo... |
ORPHA:249 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Retinal coloboma, Abnormal heart morphology, Astigmatism, Short neck, Microphthalmia, S... |
OMIM:618571 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures |
OMIM:612287 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Dilated cardiomyopathy, Increased total bilirubin, Elbow flexion contracture, Elevated ... |
OMIM:608836 |
| Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Pathologic fracture, Increased susceptibility to fractures, Hypoca... |
ORPHA:352540 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Polysplenia, Camptodactyly of finger, Supernumerary nipple, Cardiomyo... |
ORPHA:373 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Blue irides, Short nose |
OMIM:614613 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Hypophosphatemia, Primary hyperparathyroidism, ... |
OMIM:600740 |
| Microphthalmia, Lenz Type |
|
Iris coloboma, Cataract, Microcornea, Chorioretinal coloboma, Camptodactyly of finger, Optic disc... |
ORPHA:568 |
| Congenital Sialidosis Type 2 |
|
Cataract, Hepatosplenomegaly, Developmental cataract, Corneal opacity, Hepatomegaly, Generalized ... |
ORPHA:93400 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Decreased circulating antibody level, Abnormality of chromosome stability, Neutropenia |
ORPHA:175 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Hypertrophic cardiomyopathy, Decreased skull ossification, Ventricular... |
OMIM:616897 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Rickets, Large for gestational age, Hypophosphatemia, Hepatomegaly |
OMIM:616026 |
| Squalene Synthase Deficiency |
|
Hypocholesterolemia, Abnormality of hair pigmentation, Epicanthus, Decreased LDL cholesterol conc... |
OMIM:618156 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... |
OMIM:615934 |
| Diamond-Blackfan Anemia 1 |
|
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Fai... |
OMIM:105650 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures |
OMIM:612286 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Corneal opacity |
ORPHA:281090 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion |
OMIM:118100 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Failure to thrive, Delayed skeletal m... |
ORPHA:411634 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Temtamy Syndrome |
|
Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hip dislocation, Lens luxa... |
OMIM:218340 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited knee flexion/extension, Limited hip movement, Limited elbow movement, Elevated circulatin... |
ORPHA:268 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Cataract, Anophthalmia, Atrial septal defect, Microphthalmia, Leukemia |
ORPHA:2526 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Cataract, Severe B lymphocytopenia, Hepatic fibrosis, Delayed cranial suture cl... |
OMIM:620005 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Abnormal cornea morphology, Interphalangeal joint contracture of f... |
ORPHA:1826 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Generalized lymphadenopathy, Ch... |
ORPHA:420741 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures, Bone pain |
OMIM:613388 |
| Martsolf Syndrome 1 |
|
Cataract, Tracheomalacia, Cardiomyopathy, Talipes valgus, Avascular necrosis of the capital femor... |
OMIM:212720 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decre... |
ORPHA:425 |
| Kapur-Toriello Syndrome |
|
Failure to thrive, Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Short neck, ... |
ORPHA:2328 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Congenital contracture, Cryptorchidism, Radioulnar synostosis, Sho... |
OMIM:248700 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Hypospadias, Cryptorchidism |
ORPHA:457485 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411515 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Hirsutism, Splenomegaly, Corneal opacity |
OMIM:607015 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Cataract, Kyphosis, Pathologic fracture, Increased susceptibility to f... |
OMIM:259770 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Distal Deletion 6P |
|
Ectopia pupillae, Hypoplasia of the iris, Downslanted palpebral fissures, Epicanthus, Posterior e... |
ORPHA:96125 |
| Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Rickets, Failure to thrive, Corneal crystals, Hypokalemia, Hypophosph... |
ORPHA:411629 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Bilateral microphthalmos, Abnormal heart morphology, Cryptorchi... |
ORPHA:369891 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Short palpebral fissure, Pigmentary retinopathy, Peters anomaly, Downslanted palpebral fissures, ... |
OMIM:612582 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Delayed skeletal maturation, Dysplastic sacrum, Cardiomegaly, Wo... |
OMIM:613320 |
| Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Microcornea, Limitation of joint mobility, Interphalangeal joint contracture of ... |
OMIM:151200 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly |
OMIM:230650 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... |
OMIM:214500 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Cryptorchidism, Hypoplastic vertebral bodies, ... |
ORPHA:3027 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Delayed skeletal maturation, Delayed cranial suture closure, Thoracic hemiver... |
OMIM:268310 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Multiple lentigines, Lymph... |
ORPHA:1830 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Nail dysplasia, Opacific... |
OMIM:256800 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... |
ORPHA:860 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Hypotriglyceridemia, Ectopia pupillae, Coloboma, Corneal opacity, Microphthalmia, ... |
ORPHA:85167 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... |
OMIM:203100 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short palpebral fissure, Small nail, Thin eyebrow, Telecanthus, Corneal opacity, Cafe-au-lait spo... |
ORPHA:364577 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Cholestasis, Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Cholestasis, Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Micro Syndrome |
|
Cataract, Microcornea, Retinal coloboma, Joint stiffness, Cryptorchidism, Microphthalmia, Scolios... |
ORPHA:2510 |
| 17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Keratitis, Conjunctivitis, Microcytic anemia, Lym... |
ORPHA:906 |
| Baraitser-Winter Syndrome 2 |
|
Short neck, Coloboma, Microphthalmia |
OMIM:614583 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Short neck, Posterior embryotoxon, Atrial septal defec... |
ORPHA:567 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate b... |
ORPHA:79396 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Methylmalonic acidemia |
OMIM:614105 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity |
ORPHA:309288 |
| Opsismodysplasia |
|
Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Short neck, Hypophosphatemia, S... |
OMIM:258480 |
| Charge Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Anterior hypopituitarism, Tetralogy of Fallot, Anophthalmi... |
ORPHA:138 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Cataract |
OMIM:266500 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Anophthalmia, Cryptorchidism, Microphthalmia, Iris coloboma |
ORPHA:2250 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis, Decreased body weight, Microphthalmia, Flexion contracture, Optic nerve h... |
OMIM:614833 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Wide nasal bridge, Cataract, Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebr... |
OMIM:614230 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... |
ORPHA:231736 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... |
ORPHA:221139 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Microphthalmia, Scoliosis, ... |
ORPHA:404440 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Corneal opacity |
ORPHA:93474 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Co... |
OMIM:620519 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Proboscis Lateralis |
|
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia, Ventricular sep... |
ORPHA:141099 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia, Hepatic steatosis |
OMIM:605911 |
| Immunodeficiency 40 |
|
Thrombocytopenia, Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, T lympho... |
OMIM:616433 |
| Wilson Disease |
|
Hepatitis, Kayser-Fleischer ring, Acute hepatitis, Hepatic steatosis, Splenomegaly, Anemia, Cirrh... |
ORPHA:905 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly, Thrombocytop... |
OMIM:608013 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Microphthalmia, Buphthalmos, Cataract, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Wagro Syndrome |
|
Cataract, Downslanted palpebral fissures, Aniridia, Ptosis, Corneal opacity |
OMIM:612469 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Joint hypermobility, Anterior concavity of thoracic vertebrae, Persistence of hemoglobin F |
OMIM:617101 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia |
OMIM:134600 |
| Hurler Syndrome |
|
Wide nasal bridge, Thick eyebrow, Splenomegaly, Generalized hirsutism, Abnormality of the tonsils... |
ORPHA:93473 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Hypophosphatem... |
OMIM:300009 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Microcornea, Ventricular septal defect, Atrial septal defect, Microphthalmia, Scoliosis... |
OMIM:616449 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Pterygium, Hypertrophic cardiomyopathy, Concentric hypertrophic cardio... |
OMIM:618052 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Congenital contracture, Peters anomaly, Megalocornea, Cryptorchidism, Elevated circulat... |
OMIM:236670 |
| Warburg Micro Syndrome 4 |
|
Microcornea, Decreased testicular size, Cryptorchidism, Developmental cataract, Microphthalmia, F... |
OMIM:615663 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Opacification of the corneal stroma, Short nose, Downslanted palpebral fissures |
OMIM:601853 |
| Mend Syndrome |
|
Aortic valve stenosis, Cataract, Failure to thrive, Abnormal heart morphology, Elevated 8(9)-chol... |
ORPHA:401973 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Wide nasal bridge, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morpho... |
ORPHA:163746 |
| 3Mc Syndrome 3 |
|
Highly arched eyebrow, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inversus |
OMIM:248340 |
| Ablepharon Macrostomia Syndrome |
|
Fine hair, Cryptophthalmos, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent ey... |
ORPHA:920 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Bilateral ptosis, Hypoplasia of the iris, Aniridia, C... |
OMIM:106210 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Cataract, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Jaundice |
ORPHA:469 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Synostosis of carpal bones, Elbow dislocation, Camptodactyly of 2nd-5th fin... |
ORPHA:1106 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy |
ORPHA:85447 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4th finger, M... |
OMIM:618914 |
| 2Q31.1 Microdeletion Syndrome |
|
Iris coloboma, Delayed skeletal maturation, Camptodactyly of finger, Optic disc coloboma, Cryptor... |
ORPHA:251014 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ... |
ORPHA:331235 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of toe, Failure to thrive, Camptodactyly of finger, Microcytic anemia, Elbow ... |
OMIM:256040 |
| Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Splenomegaly, Hirsutism, Epicanthus, Corneal opacity, Hepatomegaly |
OMIM:253220 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris colob... |
OMIM:243605 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Atrial septal defect, Osteoporo... |
OMIM:617190 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... |
OMIM:232300 |
| Dent Disease |
|
Delayed epiphyseal ossification, Renal hypophosphatemia, Cataract, Rickets, Osteomalacia, Enlarge... |
ORPHA:1652 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Ritscher-Schinzel Syndrome 3 |
|
Chorioretinal coloboma, Atrioventricular canal defect, Epiphyseal stippling, Cryptorchidism, Poor... |
OMIM:619135 |
| Tbck-Related Intellectual Disability Syndrome |
|
Wide nasal bridge, Abnormal circulating lipid concentration, Thick eyebrow, Upslanted palpebral f... |
ORPHA:488632 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Parathyroid Carcinoma |
|
Chondrocalcinosis, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphol... |
ORPHA:143 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Overweight |
ORPHA:370010 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level, Hypoplastic female externa... |
OMIM:606056 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Microcornea, Telecanthus, Opacification of the corneal stroma, Anterior chambe... |
OMIM:601499 |
| Aicardi Syndrome |
|
Cataract, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Hepatoblastoma, Hemivertebra... |
OMIM:304050 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Hepatic steatosis, Elevated circulating creatine kinase concentration, Cardiomega... |
OMIM:255120 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Alopecia, Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
| Farber Disease |
|
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic cholestasis with episodic jaundice, Lymphadeno... |
ORPHA:333 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased seru... |
ORPHA:2959 |
| 1Q21.1 Microdeletion Syndrome |
|
Iris coloboma, Cataract, Failure to thrive, Cryptorchidism, Joint hypermobility, Abnormal cardiac... |
ORPHA:250989 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Ventricular septal defect, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, ... |
OMIM:617022 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly |
OMIM:601005 |
| Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus |
OMIM:143890 |
| Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
| Mucopolysaccharidosis Type 3 |
|
Cataract, Recurrent tonsillitis, Abnormal form of the vertebral bodies, Joint stiffness, Genu val... |
ORPHA:581 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma |
ORPHA:1791 |
| Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Joint dislocation, Abnormal heart valve morpho... |
ORPHA:56 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect, Short neck, Acute myeloid leukemia, Atrial septal def... |
OMIM:610832 |
| Trichothiodystrophy |
|
Osteopenia, Microcornea, Joint dislocation, Increased mean corpuscular hemoglobin concentration, ... |
ORPHA:33364 |
| Nance-Horan Syndrome |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:627 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency ane... |
OMIM:212750 |
| Manitoba Oculotrichoanal Syndrome |
|
Corneopalpebral synechiae, Anophthalmia, Microphthalmia |
OMIM:248450 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Vertebral segmentatio... |
ORPHA:3109 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Polyarticular arthritis, Osteomalacia, Increased bone mineral density, Sc... |
ORPHA:289176 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nasal bridge, Hypoplastic spleen |
ORPHA:89844 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, White forelock,... |
OMIM:613266 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility |
OMIM:617333 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Meningioma |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Impotence, Hypothalamic hypothyro... |
ORPHA:2495 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Hypoplasia of the iris, Linear hyperpigmentation, Eyelid coloboma, Sclerocornea, Limbal... |
OMIM:613001 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cataract, Microcornea, Cryptorchidism, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Abno... |
ORPHA:3301 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Abnormal peritoneum morphology, Co... |
ORPHA:1764 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma |
OMIM:256540 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Enthesitis, Genu valgum, Tooth... |
ORPHA:89936 |
| Frontorhiny |
|
Iris coloboma, Cataract, Camptodactyly of finger, Hypopituitarism, Lumbar hyperlordosis, Micropht... |
ORPHA:391474 |
| Robinow Syndrome |
|
Abnormal heart morphology, Cryptorchidism, Kyphoscoliosis, Ventricular septal defect, Pulmonary v... |
ORPHA:97360 |
| Lead Poisoning |
|
Delayed skeletal maturation, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentra... |
ORPHA:330015 |
| Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Splenomegaly, Hirsutism, Generalized hirsutism, Corneal opacity |
ORPHA:354 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Abnormal circulating leptin concentratio... |
ORPHA:2298 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Otodental Syndrome |
|
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma |
ORPHA:2791 |
| Papillorenal Syndrome |
|
Cataract, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine concentration, J... |
OMIM:120330 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... |
OMIM:135100 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Opacification of ... |
ORPHA:3453 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Hypopigmentation of the skin, Alopecia, Hypertrichosis, Elevated circulating urop... |
OMIM:263700 |
| Aicardi Syndrome |
|
Block vertebrae, Chorioretinal coloboma, Optic disc coloboma, Butterfly vertebrae, Hepatoblastoma... |
ORPHA:50 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Increased hepatic echogenicity, Optic disc coloboma, Ectopia pupillae, Joint stiff... |
OMIM:608940 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Joubert Syndrome 22 |
|
Coloboma, Microphthalmia |
OMIM:615665 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Ptosis, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma |
OMIM:212550 |
| Cerebrooculonasal Syndrome |
|
Craniosynostosis, Iris coloboma, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Delayed skeletal maturation, Delayed cranial suture closure, Wormian bones, Co... |
OMIM:601812 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Failure to thrive, Joint hypermobility, Subvalvular aortic stenosis, Six lumbar vertebr... |
ORPHA:65286 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Vertebral segmentation defect, Ventricular septal defect, M... |
OMIM:612530 |
| Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia |
OMIM:615636 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Cryptorchidism, Kyphoscoliosis, Ventricular septal defect, Perimembranous ventric... |
OMIM:301040 |
| Brittle Cornea Syndrome |
|
Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph... |
ORPHA:90354 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Kyphoscoliosis, C... |
ORPHA:324410 |
| Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal ... |
OMIM:264480 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath... |
OMIM:300952 |
| Warburg Micro Syndrome 2 |
|
Cataract, Microcornea, Cryptorchidism, Developmental cataract, Microphthalmia, Flexion contracture |
OMIM:614225 |
| Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... |
OMIM:242840 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Hypop... |
ORPHA:167 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Viss Syndrome |
|
Coronary sinus enlargement, Hip dislocation, Right ventricular dilatation, Failure to thrive, Rec... |
OMIM:619472 |
| Cockayne Syndrome B |
|
Microcornea, Small for gestational age, Limitation of joint mobility, Failure to thrive, Hypoplas... |
OMIM:133540 |
| 3P25.3 Microdeletion Syndrome |
|
Knee flexion contracture, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Mic... |
ORPHA:435638 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Osteopenia, Abnormal heart valve morphology, Large for gestational age, Fi... |
ORPHA:363705 |
| Monosomy 9Q22.3 |
|
Cataract, Abnormality of the vertebral column, Large for gestational age, Cardiac fibroma, Joint ... |
ORPHA:77301 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Cataract, Joint contracture of the hand, Hypoplasia of the iris, Microphthalmia,... |
OMIM:251300 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Chondrocalcinosis, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Hypophosphatemia, ... |
ORPHA:99880 |
| Lathosterolosis |
|
Cataract, Microcornea, Intrahepatic cholestasis, Downslanted palpebral fissures, Epicanthus, Ptos... |
ORPHA:46059 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Anophthalmia, Corneal opacit... |
OMIM:219000 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:2547 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, E... |
OMIM:175780 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Microcornea, Contracture of the proximal interphalangeal joint of the 3rd finger,... |
ORPHA:464738 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia, Lenticonus, Anterior polar cataract |
OMIM:104200 |
| Bartsocas-Papas Syndrome 1 |
|
Axillary pterygium, Alopecia, Popliteal pterygium, Ankyloblepharon, Small nail, Sparse scalp hair... |
OMIM:263650 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level, Hypothyroidism, Thrombocytosis,... |
OMIM:212065 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Hepatic steatosis |
ORPHA:70472 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Remnants of the hya... |
OMIM:614643 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Splenomeg... |
OMIM:613385 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Joint stiffness, Atrial septal defect, Vertebral segmentation defect |
ORPHA:1915 |
| Dubowitz Syndrome |
|
Aplastic anemia, Delayed skeletal maturation, Hypoplasia of the iris, Megalocornea, Hypocholester... |
OMIM:223370 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... |
ORPHA:309854 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Iris coloboma, Ectopia lentis, Chorioretinal coloboma, Supernumerary ... |
OMIM:305600 |
| Schimke Immunoosseous Dysplasia |
|
Wide nasal bridge, Coarse hair, Hypermelanotic macule, Fine hair, Lymphopenia, Pancytopenia, Abno... |
OMIM:242900 |
| Adams-Oliver Syndrome 2 |
|
Developmental cataract, Microphthalmia |
OMIM:614219 |
| Moebius Syndrome |
|
Decreased testicular size, Short neck, Microphthalmia, Camptodactyly, Arthrogryposis multiplex co... |
OMIM:157900 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Cutaneous abscess, Increased hepatic echogenicity, Joint hypermobility, Eosinophilia,... |
OMIM:147060 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen... |
ORPHA:3322 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... |
OMIM:300972 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Hartsfield Syndrome |
|
Craniosynostosis, Microphthalmia |
ORPHA:2117 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Branchiooculofacial Syndrome |
|
Cataract, Fusion of middle ear ossicles, Elbow flexion contracture, Supernumerary nipple, Retinal... |
OMIM:113620 |
| Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, Prema... |
OMIM:611584 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice |
ORPHA:615 |
| Chromosome 17Q12 Duplication Syndrome |
|
Peters anomaly, Atrial septal defect, Microphthalmia |
OMIM:614526 |
| Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Persistent open anterior fontanelle, Microvesicular hepatic steatosis, Microphthal... |
OMIM:620601 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis, Corneal opacity |
ORPHA:584 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Cataract, Band keratopathy, Alopecia, Hepatitis, Exocrine pancreatic insufficiency, Kera... |
OMIM:269200 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Retinal coloboma, Abnormal he... |
OMIM:184705 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:271520 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Cryptorchidism, Short neck, Vertebral fusion, Vertebral arch anomaly... |
OMIM:148050 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:228308 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Corneal opacity |
OMIM:272200 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Corneal opacity... |
OMIM:120200 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Iris coloboma, Absent nipple, Optic disc coloboma, Patent foramen ovale, Thoracic scoliosis, Apla... |
OMIM:620186 |
| Monosomy 18P |
|
Microphthalmia, Short neck, Kyphoscoliosis |
ORPHA:1598 |
| 14Q22Q23 Microdeletion Syndrome |
|
Delayed skeletal maturation, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Anterior pituitar... |
ORPHA:264200 |
| Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Low anterior hairline, Generalized hirsutism, Abnormality of the tonsils, Corneal o... |
ORPHA:579 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa... |
OMIM:614921 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Epicanthus, Corneal opacity |
ORPHA:423461 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Cardiomyopathy, Splenomegaly, Corneal ulceration, Keratoconju... |
ORPHA:90324 |
| Hallermann-Streiff Syndrome |
|
Iris coloboma, Decreased number of sternal ossification centers, Cataract, Tracheomalacia, Chorio... |
OMIM:234100 |
| Pelvis-Shoulder Dysplasia |
|
Microcornea, Abnormal form of the vertebral bodies, Bilateral microphthalmos, Camptodactyly of fi... |
ORPHA:2839 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentratio... |
ORPHA:308552 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Coloboma, Microphthalmia |
OMIM:167730 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Red hair, Hyperbilirubinemia |
OMIM:609734 |
| Vitreoretinochoroidopathy |
|
Microcornea, Developmental cataract, Pulverulent cataract, Microphthalmia |
OMIM:193220 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient hypophosphatemia, Hyperkale... |
ORPHA:79102 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Thoracic scoliosis, Knee joint hypermobility,... |
ORPHA:1692 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Failure to thrive, Delayed skeletal maturation, Wide cranial sutures, Micr... |
OMIM:257850 |
| Moebius Syndrome |
|
Breast aplasia, Epicanthus, Ptosis, Multiple cafe-au-lait spots, Corneal opacity, Blepharitis |
ORPHA:570 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Oculoectodermal Syndrome |
|
Wide nasal bridge, Hyperpigmented streaks, Microcornea, Supernumerary nipple, Astigmatism, Eyelid... |
OMIM:600268 |
| Cockayne Syndrome |
|
Lentiglobus, Cataract, Band keratopathy, Congenital contracture, Contractures of the large joints... |
ORPHA:191 |
| Roberts Syndrome |
|
Cataract, Synostosis of carpal bones, Patellar aplasia, Knee flexion contracture, Cryptorchidism,... |
ORPHA:3103 |
| Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Lumbar hemivertebrae, Osteopenia, Delayed skeletal maturation, Eunuchoid habitus, Joint hypermobi... |
ORPHA:2463 |
| Trisomy 18 |
|
Cataract, Microcornea, Delayed skeletal maturation, Camptodactyly of finger, Cryptorchidism, Vent... |
ORPHA:3380 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Keratoconjunctivitis sicca, Ventricular septal defect, Microphthalmia |
OMIM:234050 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pu... |
ORPHA:99867 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Spina bifida occulta, Butterfly vertebrae, Fused cervical ver... |
OMIM:619227 |
| Williams Syndrome |
|
Synostosis of joints, Megalocornea, Genu valgum, Cryptorchidism, Mitral valve prolapse, Polycysti... |
ORPHA:904 |
| Degcags Syndrome |
|
Cholestasis, Hepatosplenomegaly, Pancytopenia, Genu valgum, Hyperbilirubinemia, Cryptorchidism, V... |
OMIM:619488 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Microcornea, Failure to thrive, Anophthalmia, Cryptorchidism, Colobo... |
OMIM:607932 |
| Traboulsi Syndrome |
|
Cataract, Ectopia lentis, Phakodonesis, Joint hypermobility, Iris atrophy, Cubitus valgus, Anteri... |
OMIM:601552 |
| Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Recurrent corneal erosions, Microphthalmia, Conju... |
OMIM:153400 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Long eyelashes, Low anterior hairline, Hirsutism, Broad eyebrow, Keratoconjunctiv... |
ORPHA:495875 |
| Cushing Disease |
|
Lymphopenia, Vertebral compression fracture, Leukocytosis, Adrenal hyperplasia, Increased body we... |
ORPHA:96253 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Joint contracture of the 5th finger, Joint hypermobility, Microphthalmia, S... |
OMIM:620098 |
| Cantú Syndrome |
|
Platyspondyly, Delayed skeletal maturation, Hypertrophic cardiomyopathy, Abnormal heart valve mor... |
ORPHA:1517 |
| Focal Dermal Hypoplasia |
|
Iris coloboma, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Camptodactyly of f... |
ORPHA:2092 |
| Autoimmune Hepatitis |
|
Increased circulating IgG level, Splenomegaly, Thyroiditis, Increased circulating antibody level |
ORPHA:2137 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Microphthalmia, Decreased skull ossification |
OMIM:300863 |
| De Barsy Syndrome |
|
Cataract, Downslanted palpebral fissures, Epicanthus, Corneal opacity, Sparse hair |
ORPHA:2962 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Contracture o... |
ORPHA:83617 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
| Cousin Syndrome |
|
Joint contracture of the hand, Microcornea, Dislocation of the femoral head, Humeroradial synosto... |
OMIM:260660 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Chorioretinal coloboma, Tetralog... |
OMIM:115470 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decreased circul... |
ORPHA:183675 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Ano... |
OMIM:619381 |
| Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the nail, Alopecia, Keratitis, Hypoplastic fingernail, Abnormal hair morphology, T... |
ORPHA:2273 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Flexion contracture, Small for... |
OMIM:601675 |
| Curry-Jones Syndrome |
|
Craniosynostosis, Iris coloboma, Optic disc coloboma, Microphthalmia |
ORPHA:1553 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia i... |
ORPHA:42775 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Megalocornea, Polycystic ovaries, Ventricular septal defect, Hepatomegaly, Car... |
ORPHA:137675 |
| Chime Syndrome |
|
Acute leukemia, Fine hair, Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Spar... |
ORPHA:3474 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, Premature... |
OMIM:251260 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,... |
ORPHA:79430 |
| Tyrosinemia Type 2 |
|
Abnormality of the nail, Corneal opacity |
ORPHA:28378 |
| Cardiospondylocarpofacial Syndrome |
|
Failure to thrive, Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synostosis,... |
OMIM:157800 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Synostosi... |
OMIM:101200 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Monosomy 18Q |
|
Secondary growth hormone deficiency, Bilateral cryptorchidism, Decreased circulating IgA level, H... |
ORPHA:1600 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal opacity, A... |
ORPHA:2396 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Cataract, Microcornea, Annular pancreas, Cryptorchidism, Kyphoscolios... |
OMIM:268400 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Thrombocytopeni... |
ORPHA:647 |
| Seckel Syndrome 2 |
|
Small for gestational age, Microphthalmia |
OMIM:606744 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Failure to thrive, Microphthalmia, Camptodactyly, Hip dislocation |
OMIM:617729 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Opacification of the corneal st... |
OMIM:251290 |
| Raine Syndrome |
|
Increased bone mineral density, Short neck, Hypophosphatemia, Arthrogryposis multiplex congenita |
OMIM:259775 |
| Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Ovarian neoplasm, Corneal erosion, Vertebral segmentation defect |
ORPHA:87 |
| Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... |
OMIM:610829 |
| Ogden Syndrome |
|
Delayed cranial suture closure, Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bi... |
OMIM:300855 |
| Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Opacification of the corneal stroma, Corneal opacity |
OMIM:253010 |
| Microphthalmia, Syndromic 1 |
|
Iris coloboma, Joint contracture of the hand, Microcornea, Chorioretinal coloboma, Optic disc col... |
OMIM:309800 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... |
ORPHA:3337 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Elevated amniotic fluid alpha-fetoprotein, Malformation of the hepatic ductal p... |
OMIM:249000 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Small nail, Cholestasis, Elevated circulating phytanic acid con... |
OMIM:614866 |
| Brucellosis |
|
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy, Thro... |
ORPHA:1304 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Cryptorchidism, Left ventricular hypertrophy, Microphthalmia, Camptodactyly, Small for gestationa... |
OMIM:619148 |
| Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
| Treacher-Collins Syndrome |
|
Iris coloboma, Cataract, Abnormality of the vertebral column, Failure to thrive, Cryptorchidism, ... |
ORPHA:861 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Telecanthus, Upslanted palpebral fissure, Long palpebral fissure, Hypopigm... |
ORPHA:1974 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Secondary hyperaldosteronism, Lymphopenia, Decreased circulatin... |
ORPHA:90363 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia |
OMIM:614402 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Ventricular septal defect, Camptodactyly of finger, Prominent metopic ridge |
OMIM:616920 |
| Fryns Syndrome |
|
Tetralogy of Fallot, Cryptorchidism, Short neck, Corneal opacity, Abnormal cardiac septum morphol... |
ORPHA:2059 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Xeroderma Pigmentosum |
|
Cataract, Alopecia, Ankyloblepharon, Keratitis, Hypopigmented skin patches, Hypermelanotic macule... |
ORPHA:910 |
| Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... |
ORPHA:91139 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentratio... |
ORPHA:365 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Cryptorchidism, Hip contracture, Patent foramen ov... |
OMIM:617137 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased... |
OMIM:612301 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatic fibrosis, Ptosis, Hyperalaninemia, Corneal opacity, Hepatomegaly, Corneal ulceration, Ele... |
OMIM:615273 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Short neck, Microcornea, Hypoplastic nipples, Microphthalmia |
OMIM:156610 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia |
OMIM:619053 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Tran... |
ORPHA:1780 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Cryptorchidism, Microphthalmia |
ORPHA:228390 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Microphthalmia |
OMIM:611134 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Panc... |
ORPHA:355 |
| Familial Exudative Vitreoretinopathy |
|
Cataract, Reduced bone mineral density, Microphthalmia |
ORPHA:891 |
| Atelosteogenesis, Type I |
|
Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Cryptorchidism, Short neck, Vertebra... |
OMIM:108720 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... |
ORPHA:555874 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Failure to thrive, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Iris coloboma |
OMIM:618874 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hashimo... |
ORPHA:64744 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Developmental cataract, Corneal opacity |
OMIM:616603 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Downslanted palpebral fissures, Epicanthus, Multiple cafe-au-lait spots, Abnormality of... |
ORPHA:1052 |
| Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia |
OMIM:302350 |
| Fryns Syndrome |
|
Joint contracture of the hand, Polysplenia, Large for gestational age, Cryptorchidism, Ventricula... |
OMIM:229850 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... |
ORPHA:116 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Tracheomalacia, Splenic cyst, Cryptorchidism, Decreased body weigh... |
OMIM:620371 |
| Fructose Intolerance, Hereditary |
|
Failure to thrive, Hyperbilirubinemia, Hepatic steatosis, Hyperuricemia, Hypophosphatemia, Cirrho... |
OMIM:229600 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Joint dislocation, Limitation of joint mobility, Congenital contracture, Annular ... |
ORPHA:97297 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Decreased serum insulin-like growth factor 1, Annular pancreas, ... |
OMIM:618162 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Cryptorchidism, Microphthalmia |
ORPHA:2505 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Cryptorchidism, Joint hypermobility, Cardiomegaly, Hepatomegaly, Sco... |
OMIM:618143 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin conce... |
OMIM:620306 |
| Joubert Syndrome 14 |
|
Coloboma, Ventricular septal defect, Microphthalmia |
OMIM:614424 |
| Oculodentodigital Dysplasia |
|
Cataract, Hip dislocation, Microcornea, Joint contracture of the 5th finger, Cubitus valgus, Atri... |
OMIM:164200 |
| Mucolipidosis Iii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic... |
OMIM:252600 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Sparse scalp hair, Megalocornea, Downslanted palpebral fissures, ... |
ORPHA:536471 |
| Al-Gazali Syndrome |
|
Sclerocornea, Corneal opacity |
OMIM:609465 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Neurofibromatosis Type 1 |
|
Cataract, Chronic myelogenous leukemia, Inguinal freckling, Axillary freckling, Hypopigmented ski... |
ORPHA:636 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Camptodactyly, Vertebral fusion, Hyperextensible hand joints, Cryptorchidism |
OMIM:227330 |
| Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Supernumerary nipple, Camptodactyly of finger, Microphthalmia, Scoliosis, Iris coloboma |
ORPHA:1236 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j... |
ORPHA:51 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Cataract, Tracheomalacia, Decreased response to growth hormone sti... |
ORPHA:444077 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Microphthalmia |
ORPHA:163966 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Joint stiffness, Abnormal hemoglobin, Cryptorchidism, Anemia, Flexion contracture |
ORPHA:847 |
| Linear Nevus Sebaceus Syndrome |
|
Genu recurvatum, Vertebral segmentation defect, Adenoma sebaceum, Microphthalmia, Iris coloboma |
ORPHA:2612 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hirsutism, Hypermelanotic macule, Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Wilson Disease |
|
Hypouricemia, Sunflower cataract, Hypoalbuminemia, Portal fibrosis, Kayser-Fleischer ring, Hemoly... |
OMIM:277900 |
| Alpha-Mannosidosis, Infantile Form |
|
Highly arched eyebrow, Cataract, Hepatosplenomegaly, Pancytopenia, Astigmatism, Corneal opacity |
ORPHA:309282 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Tracheomalacia, Chorioretinal coloboma, Ventricular septal defect, Micr... |
ORPHA:268249 |
| Phace Association |
|
Lingual thyroid, Ventricular septal defect, Developmental cataract, Microphthalmia, Optic nerve h... |
OMIM:606519 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Absent gallbladder, Vertebral segmentation defect, Overriding aorta, Microph... |
ORPHA:3186 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Accelerated skeletal maturation, Ventricular septal defect, Joint hypermobility |
OMIM:618798 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Shallow anterior chamber, Microphthalmia |
OMIM:305390 |
| Fabry Disease |
|
Cataract, Abnormal circulating lipid concentration, Hyperlipidemia, Conjunctival telangiectasia, ... |
ORPHA:324 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Abnormal cardiac septum morphology, Microphthalmia |
ORPHA:1352 |
| Proteus Syndrome |
|
Chorioretinal coloboma, Cachexia, Hip dislocation, Cataract, Enlarged polycystic ovaries, Testicu... |
ORPHA:744 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Thymus hyperplasia |
OMIM:619036 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Peters anomaly, Lumbar hyperlordosis, Cryptorchidism, Patent foramen ovale, Ven... |
OMIM:616975 |
| Carpenter Syndrome 1 |
|
Microcornea, Polysplenia, Telecanthus, Epicanthus, Opacification of the corneal stroma |
OMIM:201000 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411511 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae, Microphthalmia |
OMIM:156900 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen |
OMIM:617053 |
| Wolf-Hirschhorn Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, High anterior hairline, Abdominal situs inversus, Megal... |
ORPHA:280 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... |
ORPHA:268882 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
| Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches, Corneal opacity |
ORPHA:96061 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short palpebral fissure, Small nail, Thin eyebrow, Telecanthus, Corneal opacity, Cafe-au-lait spo... |
OMIM:608670 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Peters anomaly, Histiocytoid cardiomyopathy, Ventricular septal defect, Overriding aort... |
OMIM:309801 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... |
OMIM:278730 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Upslanted palpebral fissur... |
OMIM:214100 |
| Ohdo Syndrome, X-Linked |
|
Cryptorchidism, Decreased body weight, Joint hypermobility, Microphthalmia, Scoliosis |
OMIM:300895 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocytoma, Neoplas... |
ORPHA:99889 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Decreased circulating IgA level, Hypoparathyroidism, Decreased circulating to... |
ORPHA:369837 |
| Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... |
ORPHA:64 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Splenomegaly, Hyperinsulinemia |
OMIM:613327 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... |
OMIM:618223 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Cataract, Astigmatism, Microphthalmia |
OMIM:618727 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Osteomalacia, Failure to thrive in infancy, Abnormal hip joint morpholog... |
ORPHA:51608 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Chondrocalcinosis, Elevated circulating creatine kinase concentra... |
ORPHA:221 |
| Smith-Lemli-Opitz Syndrome |
|
Wide nasal bridge, Cataract, Downslanted palpebral fissures, Abnormality of the gallbladder, Upsl... |
ORPHA:818 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Hirsutism, Splenomegaly, Corneal opacity |
OMIM:253200 |
| Renpenning Syndrome 1 |
|
Cataract, Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the... |
OMIM:309500 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Pancreatitis, Hypocalce... |
ORPHA:405 |
| Joubert Syndrome 2 |
|
Failure to thrive, Optic disc coloboma, Chorioretinal coloboma, Metopic synostosis, Microphthalmia |
OMIM:608091 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Tetralogy of Fallot, Genu valgum, Limbal dermoid, Anophthalmia, Ventricular sept... |
OMIM:164210 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Pallister-Hall Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... |
OMIM:146510 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Ankylosis, Hypophosphatemic rickets, Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Megalocornea, Hypoplasia of the retina, Elevated circulating creatine kinase concentrat... |
OMIM:253280 |
| Fraser Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism, Vertebral segmentation defect |
ORPHA:2052 |
| Kindler Epidermolysis Bullosa |
|
Abnormal toenail morphology, Anemia, Abnormality of skin pigmentation, Corneal opacity, Ectropion... |
ORPHA:2908 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level, Granuloma, Abnormal ductus chol... |
ORPHA:562639 |
| Tick-Borne Encephalitis |
|
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... |
ORPHA:297 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Cryptorchidism, Microphthalmia |
ORPHA:2728 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp... |
ORPHA:2072 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Joint hypermobility, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia |
ORPHA:2714 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sparse eyebrow, Narrow palpebral fissure, Sclerocornea, Sparse hair |
OMIM:619869 |
| Rift Valley Fever |
|
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia |
ORPHA:319251 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Adrenal insufficiency, Orchitis,... |
ORPHA:99827 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupil morphology, C... |
ORPHA:649 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos, Joint hypermobility |
OMIM:607597 |
| Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma, Large for gestational age, Obesity, Short neck,... |
ORPHA:2563 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... |
ORPHA:1329 |
| Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Microphthalmia |
OMIM:611561 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Wide nasal bridge, Hepatosplenomegaly, Splenomegaly, Abnormality of retinal pigmentation, Corneal... |
ORPHA:217085 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Failure to thrive, Muscular ventricular septal defect, Nuclear pulverulent cataract, Jo... |
OMIM:612474 |
| Yunis-Varon Syndrome |
|
Cataract, Hip dislocation, Bilateral microphthalmos, Cardiomyopathy, Tetralogy of Fallot, Cryptor... |
ORPHA:3472 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Wide nasal bridge, Hepatosplenomegaly, Splenomegaly, Abnormality of retinal pigmentation, Corneal... |
ORPHA:217093 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98794 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Decreased calvarial ossification, Short neck, Single ventricle, Microphthalmia |
OMIM:619879 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Upslanted palpebral fissure, Almond-shaped p... |
ORPHA:177907 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Cervical C5/C6 vertebrae fusion, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, ... |
OMIM:613458 |
| Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Microphthalmia |
OMIM:603194 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Short neck, Microphthalmia |
OMIM:617666 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Total anomalous pulmonary venous return, Popliteal pterygium, Shallow acetabular fossae, Delayed ... |
OMIM:609945 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Microcornea, Microphthalmia |
OMIM:110100 |
| Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic toenail, Nail dystrophy, Kera... |
ORPHA:2907 |
| Hallermann-Streiff Syndrome |
|
Tracheomalacia, Abdominal situs inversus, Cryptorchidism, Developmental cataract, Microphthalmia,... |
ORPHA:2108 |
| Chromosome 13Q14 Deletion Syndrome |
|
Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Ventricular s... |
OMIM:613884 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Splenomegaly |
ORPHA:583 |
| Mucopolysaccharidosis Type 2 |
|
Wide nasal bridge, Splenomegaly, Abnormality of retinal pigmentation, Enlarged tonsils, Corneal o... |
ORPHA:580 |
| Curry-Jones Syndrome |
|
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Microphthalmia, Iris coloboma |
OMIM:601707 |
| Fontaine Progeroid Syndrome |
|
Platyspondyly, Coronal craniosynostosis, Absent nipple, Failure to thrive, Delayed skeletal matur... |
OMIM:612289 |
| Frontonasal Dysplasia 2 |
|
Craniosynostosis, Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
| Neuroocular Syndrome 1 |
|
Genu recurvatum, Cataract, Microcornea, Stellate iris, Peters anomaly, Patent foramen ovale, Hypo... |
OMIM:619539 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Short neck, Humeroradial synostosis, Microphthalmia |
OMIM:251230 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, P... |
OMIM:261740 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A... |
ORPHA:79078 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cryptorchidism, Abnormal cardiac septum morphology, Microphthalmia, Cyclopia, Thyroid hypoplasia |
ORPHA:2166 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Hypothyroidism, Lymphadenopathy, Neutropenia, Autoimmune thromboc... |
OMIM:607944 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Ventricular septal defect, Microphthalmia, Camptodactyly |
OMIM:272950 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Microphthalmia |
OMIM:610651 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Cataract, Adrenal gland agenesis, Microphthalmia |
OMIM:273395 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Astigmatism, Corneal opacity |
ORPHA:464306 |
| Elsahy-Waters Syndrome |
|
Cataract, Megalocornea, Bilateral cryptorchidism, Cervical C2/C3 vertebral fusion, Phthisis bulbi |
OMIM:211380 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic toenail, Nocturnal lagophthalmos, Alopecia totalis, Loss of eyelashes, Dystrophic fing... |
ORPHA:740 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ankle flexion contracture, Cataract, Elbow flexion contracture, Cryptorchidism,... |
OMIM:268300 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Peters Plus Syndrome |
|
Cataract, Microcornea, Short palpebral fissure, Peters anomaly, Upslanted palpebral fissure, Corn... |
ORPHA:709 |
| Stuve-Wiedemann Syndrome 1 |
|
Short palpebral fissure, Blotching pigmentation of the skin, Opacification of the corneal stroma,... |
OMIM:601559 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Wiedemann-Rautenstrauch Syndrome |
|
Aplasia/Hypoplasia of the nails, Cataract, Pigmentary retinopathy, Sparse scalp hair, Upslanted p... |
ORPHA:3455 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Scoliosis, Abnormality iris morphology |
ORPHA:91387 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary va... |
ORPHA:3427 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Opacification of the corneal stroma |
OMIM:184095 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Decreased calvar... |
OMIM:617925 |
| Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Cataract, Failure to thrive, Chorioretinal coloboma, Tetralogy of ... |
ORPHA:857 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure |
ORPHA:398079 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Bilateral microphthalmos, Retinal colobo... |
ORPHA:508488 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular se... |
ORPHA:95430 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palp... |
ORPHA:98754 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ankle flexion contracture, Optic nerve hypoplasia, Sacrococcygeal pilonidal abnormality, Camptoda... |
ORPHA:468631 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Ectopia pupillae, Genu valgum, Cryptorchidism, Axenfeld anomaly, Ventricul... |
ORPHA:261552 |
| Holt-Oram Syndrome |
|
Elbow dislocation, Mitral valve prolapse, Ventricular septal defect, Radioulnar synostosis, Atria... |
OMIM:142900 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palp... |
ORPHA:98793 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palp... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palp... |
ORPHA:177901 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Genu valgum, Cryptorchidism, Axenfeld anomaly, Bicuspid aortic valve, Micr... |
ORPHA:261537 |
| Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascu... |
OMIM:157170 |
| Cockayne Syndrome A |
|
Sparse hair, Cataract, Pigmentary retinopathy, Dry hair, Retinal pigment epithelial mottling, Spl... |
OMIM:216400 |
| Monosomy 9P |
|
Limitation of joint mobility, Abnormality of the vertebral column, Cryptorchidism, Short neck, Mi... |
ORPHA:261112 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Abnormal eyebrow morphology, Blepharophimosis |
OMIM:600920 |
| Acrofrontofacionasal Dysostosis 1 |
|
Acetabular dysplasia, Iris atrophy, Microphthalmia |
OMIM:201180 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Limb Body Wall Complex |
|
Wide nasal bridge, Abnormality of the liver, Corneal opacity, Lens subluxation, Iris coloboma |
ORPHA:2369 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Flat acetabular roof, Unicoronal synostosis, Cryptorchidism, Microphthalmia |
OMIM:616300 |
| Digeorge Syndrome |
|
Short palpebral fissure, Cholelithiasis, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypoplasi... |
OMIM:188400 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Opacification of the corneal stroma |
OMIM:253000 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Neu-Laxova Syndrome 1 |
|
Cataract, Joint contracture of the hand, Pterygium, Cryptorchidism, Patent foramen ovale, Ventric... |
OMIM:256520 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Genu valgum, Cryptorchidism, Axenfeld anomaly, Decreased body weight, Bicu... |
ORPHA:2152 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure |
ORPHA:398069 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Supernumerary nipple, Tetralogy of Fallot, Ventric... |
OMIM:100300 |
| Pallister-Hall Syndrome |
|
Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Decreased testicular si... |
ORPHA:672 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Chorioretinal coloboma, Supernumerary nipple, Abnormal heart morphology, E... |
OMIM:235730 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short neck, Microcornea, Cryptorchidism, Microphthalmia |
OMIM:616734 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract, Tetralogy of Fallot, Camptodactyly of finger |
ORPHA:306542 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Coloboma, Cryptorchidism, Microphthalmia |
OMIM:603457 |
| Witteveen-Kolk Syndrome |
|
Cataract, Iris coloboma, Delayed skeletal maturation, Decreased response to growth hormone stimul... |
OMIM:613406 |
| Monosomy 13Q14 |
|
Cataract, Short neck, Iris coloboma, Microphthalmia |
ORPHA:1587 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Almond-shaped palpebral fissure |
ORPHA:739 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Iris coloboma, Microphthalmia |
OMIM:229400 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Alopecia, Subungual hyperkeratosis, Keratitis, Atrichia, Corneal neovascularization, Nail dystrop... |
OMIM:308205 |
| Autosomal Dominant Cutis Laxa |
|
Ptosis, Developmental cataract, Corneal opacity |
ORPHA:90348 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Complete atrioventricular canal defect, Ventricular septal defect, Adrenal glan... |
OMIM:236680 |
| Holoprosencephaly 7 |
|
Panhypopituitarism, Iris coloboma, Bilateral microphthalmos, Microphthalmia |
OMIM:610828 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Joint hypermobility, Hepatomegaly |
ORPHA:96191 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Osteopenia, Joint subluxation, Shallow acetabular fossae, Aortic valve cal... |
OMIM:182250 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cryptorchidism, Cardiomegaly, Hepatoblastoma, Accelerated... |
OMIM:130650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Opacification of the corneal stroma |
ORPHA:79280 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia, Corneal opacity |
ORPHA:666 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Menkes Disease |
|
Prolonged neonatal jaundice, Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... |
ORPHA:1677 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin... |
ORPHA:91500 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Treacher Collins Syndrome 1 |
|
Abnormal heart morphology, Abnormal parotid gland morphology, Cryptorchidism, Bilateral microphth... |
OMIM:154500 |
| Yunis-Varon Syndrome |
|
Aplasia/Hypoplasia of the nails, Cataract, Sparse eyebrow, Absent nipple, Upslanted palpebral fis... |
OMIM:216340 |
| Holoprosencephaly 1 |
|
Cyclopia, Single ventricle, Microphthalmia |
OMIM:236100 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration |
OMIM:615287 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
