| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... |
ORPHA:859 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... |
OMIM:618165 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Increased bone mineral density, Smal... |
OMIM:127000 |
| Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Abnormality of chromosome stability, Diabetes mellitus, Decreased circulating antibo... |
ORPHA:100 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| N Syndrome |
|
Cryptorchidism, Leukemia, Hypospadias, Abnormality of chromosome stability |
OMIM:310465 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P... |
OMIM:607115 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Delayed cranial suture closure, Delayed skeletal maturation, Bilateral microphthalmo... |
ORPHA:93325 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... |
OMIM:619947 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Woolly Hair |
|
Hypopigmentation of hair, Cataract, Slow-growing hair, Brittle hair, Abnormality of hair texture,... |
ORPHA:170 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Abnormal cardiac ... |
ORPHA:3319 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Linear Verrucous Nevus Syndrome |
|
Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, H... |
ORPHA:2611 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Optic atrophy, Microcornea, Lum... |
OMIM:616171 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Retinal d... |
OMIM:616651 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... |
ORPHA:182050 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Thoracolumbar scoliosis, Eosinophilia, Craniosynostosis, Keratitis, Hip dislocation,... |
OMIM:618523 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocal... |
OMIM:612462 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Corneal opacity, Patchy osteosclerosis, Cryptorchidism, Delayed skeletal matu... |
ORPHA:2323 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Ca... |
ORPHA:899 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... |
OMIM:239000 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Subcuta... |
OMIM:103580 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... |
OMIM:169400 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula... |
OMIM:235200 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Cataract, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conju... |
ORPHA:36913 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... |
OMIM:615513 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Retinal dystrophy, Eosi... |
ORPHA:353298 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, ... |
OMIM:618805 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Gonadal dysgenesis... |
OMIM:611926 |
| Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Wide nasal bridge, Prematu... |
OMIM:193510 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Flexion cont... |
OMIM:613155 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Th... |
ORPHA:858 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Accelerated skeletal maturation, Cryptorchidism, Neonatal epiphyseal s... |
OMIM:101800 |
| Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Cataract, Abnormal retinal vascular morphology, Cryptorc... |
ORPHA:3378 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Waardenburg Syndrome Type 2 |
|
Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Flexion contracture, Facial palsy, Elevated circulating creatine kinase concentration |
OMIM:253600 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Lathosterolosis |
|
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Lumbosacral menin... |
OMIM:607330 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity |
ORPHA:2432 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Anophthalmia, Cataract, Foot joint contracture... |
ORPHA:90321 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ... |
ORPHA:1466 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... |
OMIM:204200 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility |
ORPHA:2582 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... |
ORPHA:94089 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Cryptorchidism, Del... |
OMIM:241410 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Kyphos... |
OMIM:308300 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gestational age, Increased ... |
OMIM:222470 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Kniest Dysplasia |
|
Arthropathy, Rhegmatogenous retinal detachment, Enlarged joints, Short neck, Delayed epiphyseal o... |
ORPHA:485 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Cryptor... |
OMIM:611209 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... |
ORPHA:139471 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasi... |
OMIM:610125 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Decreased fert... |
OMIM:210900 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:613153 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Wide nasal bridge, Conjunctivitis, Long palpebral fissure,... |
OMIM:602562 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
| Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Cryptorchidism, Optic atrophy, Abnormal cardiac septum morphology... |
OMIM:616737 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
| Warburg Micro Syndrome 1 |
|
Kyphoscoliosis, Cryptorchidism, Optic atrophy, Osteoporosis, Developmental cataract, Microcornea,... |
OMIM:600118 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthal... |
OMIM:615085 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Scoliosis, Joint hypermobility, ... |
OMIM:147060 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abnormality of the tes... |
ORPHA:400 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Elevated circulating creatine kinase concentra... |
OMIM:606612 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Small for gestational age, Ventricular septal defect, Optic nerve... |
OMIM:615583 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Conjunctivitis, Eosinophilia |
ORPHA:26137 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... |
OMIM:609053 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism |
OMIM:203330 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Small for gestationa... |
ORPHA:84064 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Camptodactyly of finger, Short neck, Abnormality iris morpho... |
ORPHA:1617 |
| Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... |
OMIM:193670 |
| Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Splenomegaly, Infertility, Erec... |
ORPHA:465508 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... |
ORPHA:79444 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
OMIM:615181 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Wide nasal bridge, Upsl... |
ORPHA:1794 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... |
ORPHA:79443 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ... |
ORPHA:897 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hypocalcemia, Hyperphosphatemia, Obesity |
ORPHA:79445 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink... |
OMIM:616435 |
| Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:300915 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... |
ORPHA:2239 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Immunodeficiency 54 |
|
Chromosome breakage, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal i... |
OMIM:609981 |
| Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Abnormal hair morphology, ... |
ORPHA:894 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
| Icf Syndrome |
|
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... |
ORPHA:2268 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Lumbar hyperlordosis, Optic nerve hypoplasia, Elevated circulating ... |
ORPHA:370959 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Flexion con... |
OMIM:615249 |
| Lig4 Syndrome |
|
Hypoplasia of penis, Pancytopenia, Abnormality of chromosome stability, Cryptorchidism, Leukocyto... |
ORPHA:99812 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Arthritis, Coombs-... |
OMIM:304790 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Eosinophilia, Corneal opacity, S... |
ORPHA:464 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Abnormality... |
ORPHA:317 |
| Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp... |
ORPHA:1234 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
| Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract |
OMIM:615995 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Aspergillosis |
|
Osteomyelitis, Eosinophilia, Keratitis, Vitritis, Hepatitis, Abnormality of the vertebral column,... |
ORPHA:1163 |
| Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Elevate... |
OMIM:610377 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... |
OMIM:606069 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Abnormal... |
ORPHA:85194 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lym... |
OMIM:607594 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoparathyroidism, ... |
ORPHA:199299 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Fibular Hemimelia |
|
Joint laxity, Anophthalmia, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitatio... |
ORPHA:93323 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short nose, Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyp... |
OMIM:617404 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Ventricular septal defect, Optic nerve hypop... |
OMIM:206900 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia, Increased body weight |
ORPHA:94086 |
| Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Chromosome breakage, External genital hypoplasia |
OMIM:613390 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... |
OMIM:227650 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Camptodactyly of finger, Kyphosis, Osteoporosis, Microcornea, Abnormality of peripheral... |
ORPHA:48431 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... |
ORPHA:324416 |
| Holoprosencephaly |
|
Hyponatremia, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Failu... |
ORPHA:2162 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hemivertebrae, Microphthal... |
ORPHA:77298 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Elevated circulat... |
ORPHA:562 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Microphthalmia, Failure to thrive |
OMIM:612379 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like depo... |
OMIM:211900 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Failure to thrive, Optic atrophy, Coloboma |
OMIM:274270 |
| Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Scoliosis, Hypertrop... |
ORPHA:544469 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Wrist swelling, Retinal pigment epithelia... |
ORPHA:448237 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94090 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Chromosomal break... |
OMIM:600901 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipide... |
ORPHA:79477 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Cardiomyopathy, Neut... |
ORPHA:79312 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Platyspondyly, Scoliosis, Rod-cone dystroph... |
OMIM:602271 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Chromosomal break... |
OMIM:227645 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism, Microphthalmia |
OMIM:613730 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... |
OMIM:605724 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
| Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Cryptorchidism, Kyphosis, Flexion contracture, Developmental cataract... |
ORPHA:90322 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Microcyti... |
ORPHA:324737 |
| Gorlin Syndrome |
|
Vertebral fusion, Cataract, Cryptorchidism, Hemivertebrae, Vertebral wedging, Scoliosis, Iris col... |
ORPHA:377 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Abnormality of the lymphatic system, Optic atrophy, Flexion contr... |
ORPHA:487796 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Central posterior corneal opacit... |
OMIM:244600 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... |
ORPHA:331206 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Eosinophilia, Spinal canal stenosis, Cutaneous abscess, Pulmonic stenosis, Atrial ... |
OMIM:618282 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Eosinophilic Fasciitis |
|
Arthritis, Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... |
OMIM:204000 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Osteoporosis, Abnormal vitreous hu... |
ORPHA:2788 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Eosinophilia, Abnormal pericardium morphology, Cholangitis, Portal ... |
ORPHA:284 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Chromoso... |
OMIM:603467 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract, Small for gestational age |
OMIM:278780 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Rickets, Hypokalemia, Hypophosphatemia, Failure to thrive, ... |
ORPHA:213 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter... |
ORPHA:313892 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Cryptorchidism, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
ORPHA:363741 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... |
OMIM:602450 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Corneal opacity |
ORPHA:2370 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg... |
ORPHA:2884 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... |
OMIM:256550 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Pierpont Syndrome |
|
Joint laxity, Small for gestational age, Short neck, Cryptorchidism, Microcornea, Scoliosis, Micr... |
ORPHA:487825 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity... |
OMIM:253800 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Increased bone mineral density, Cataract, Ovoid vertebral bodies, Short neck,... |
ORPHA:163649 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
| Pierpont Syndrome |
|
Short neck, Cryptorchidism, Abnormal peripheral nervous system morphology, Microcornea, Scoliosis... |
OMIM:602342 |
| Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
| Wildervanck Syndrome |
|
Facial palsy, Short neck, Fused cervical vertebrae, Pseudopapilledema, Lens subluxation |
ORPHA:3456 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Dislocation of toes, Congenital hip dislocation, Left atrial enlargement... |
OMIM:300280 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Vertebral segmentation defect, Hypoplasti... |
OMIM:618845 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Generalized hirsutism |
ORPHA:93476 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l... |
OMIM:269920 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Congenital mal... |
ORPHA:2332 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
| Igg4-Related Pachymeningitis |
|
Low back pain, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis... |
ORPHA:449427 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:617243 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... |
OMIM:617052 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Vacuolated lymphocytes, Optic atrophy, Flexion contracture, Macular degeneration, Retinal degener... |
OMIM:256730 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Cubitus valgus, Flexion contracture of the 4th toe,... |
ORPHA:2712 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Abnormal chorioretinal morphology, Cataract, Sclerocornea, Pancre... |
ORPHA:564 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral c... |
ORPHA:2345 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Short neck, Pericardial effusion, Microphthalmia, Enlarged kidney |
OMIM:613885 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Corneal dystrophy, Camptodactyly of finger, Cryptorchidism, Abnormal vitreous humor... |
ORPHA:1101 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune hemolytic ... |
OMIM:102700 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:179494 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,... |
ORPHA:169160 |
| Short Syndrome |
|
Telecanthus, Posterior embryotoxon, Corneal opacity, Alopecia, Abnormal pupil morphology, Wide na... |
ORPHA:3163 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... |
OMIM:616005 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Failure to thrive, Pancytopenia, Increased bone mineral density, Facial palsy, Sand... |
OMIM:259700 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Hepatomegaly, Reticulocytosis, Increased bone mineral density, Facial palsy, R... |
OMIM:611490 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
| Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Short nose, Corneal opacity, Developmental cataract |
OMIM:617183 |
| Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Macular dystrophy, Hypertrophic cardiomyopathy, Abno... |
ORPHA:225 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... |
OMIM:620210 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Chromosomal break... |
OMIM:227646 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Cataract, Ventricular septal defect, Eosinophilia, Corneal opacity, Pancreatic... |
OMIM:274000 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Hypergonadotropic hypogonadism, Patent duct... |
OMIM:300514 |
| Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Anophthalmia, Iris coloboma |
ORPHA:1104 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygi... |
OMIM:178110 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Cryptorchidism, Joint hyperflexibility, Meg... |
ORPHA:915 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A... |
ORPHA:1867 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... |
ORPHA:85327 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, Failure to thrive, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Abscess, Scoliosis, Neutropenia, Failure to thrive, ... |
OMIM:615816 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian carcinoma, Anemia, Ovarian neoplasm |
OMIM:617883 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... |
OMIM:618986 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Lym... |
ORPHA:2221 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Parathyroid hyperplasia, Calvarial osteosclerosis |
OMIM:617994 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... |
ORPHA:340 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... |
OMIM:612852 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Mi... |
ORPHA:959 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fracture... |
ORPHA:53 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hepatic cysts |
OMIM:618999 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,... |
OMIM:209950 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... |
OMIM:618048 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Sple... |
OMIM:608799 |
| Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer... |
ORPHA:508533 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... |
OMIM:113000 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... |
ORPHA:276 |
| Cinca Syndrome |
|
Joint dislocation, Hepatomegaly, Abnormality of thrombocytes, Elevated circulating C-reactive pro... |
ORPHA:1451 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Wide nasal bridge, Hypopigmented skin patc... |
OMIM:148820 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical insta... |
OMIM:617425 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Cataract, Ventricular septal defect, Bicuspid aortic v... |
OMIM:610443 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Optic atrophy, Abnormal heart morphology, Astigmatism,... |
ORPHA:494344 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
| Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Scoliosis, Rod-co... |
OMIM:616394 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Opacification of the corneal stroma,... |
OMIM:158310 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Osteopo... |
OMIM:214150 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia |
OMIM:613951 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating IgG level, Decr... |
OMIM:618495 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Decreased circul... |
OMIM:240500 |
| Alg8-Cdg |
|
Hyponatremia, Cataract, Small for gestational age, Thrombocytopenia, Optic atrophy, Camptodactyly... |
ORPHA:79325 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr... |
OMIM:239200 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn... |
ORPHA:93315 |
| Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-con... |
OMIM:266500 |
| Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Genu recurvatum, Splenomegaly, Abnormal pupil m... |
ORPHA:2969 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Cryptorchidism, Hemivertebrae, Hip dislocation, Abnormal for... |
ORPHA:3412 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis,... |
ORPHA:3191 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Neutrophilia, Ankle swelling, Leukocytosis, Dilated car... |
ORPHA:3260 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Cataract, Bicuspid aortic valve, Cryptorchidism, Kyphosis, Hip dislocation, Joi... |
ORPHA:96169 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis,... |
OMIM:249270 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Ventricular septal defect, Short neck, Platyspondyly, Microphthalmia, Decreased skull o... |
ORPHA:93267 |
| Pgm3-Cdg |
|
Hemolytic anemia, Lymphopenia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosino... |
ORPHA:443811 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Splenomegaly, Cardiomyopathy, Microphthalmia, Reti... |
ORPHA:773 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro... |
ORPHA:14 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Abnormal circulating cholesterol concentration, Cataract, Optic atrophy, Scoliosis |
OMIM:270800 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Abnormal fifth cranial nerve morphology, Elevated circulating C-reactive protein co... |
ORPHA:449563 |
| Temtamy Syndrome |
|
Joint hyperflexibility, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Genu varum |
ORPHA:1777 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Anophthalmia, Unilateral cryptorchidism, Capitate-hamate fusion, 4-5 metacarpal sy... |
OMIM:206920 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Abnormality o... |
OMIM:614307 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Leukopenia, Car... |
ORPHA:27 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... |
OMIM:619652 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Flexion contracture, Microcornea, Atrial septal defect, Contracture of the proximal... |
OMIM:300166 |
| Infantile Refsum Disease |
|
Hepatomegaly, Failure to thrive, Cataract, Facial palsy, Optic atrophy, Elevated circulating phyt... |
ORPHA:772 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bone pain, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth a... |
ORPHA:89937 |
| Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig... |
OMIM:253250 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Failure ... |
ORPHA:193 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Cataract, Retinal thinning, Abnormal acetabulum morphology, Jo... |
ORPHA:166011 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... |
ORPHA:423 |
| Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Joint laxity, Ven... |
OMIM:615673 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglob... |
ORPHA:534 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Vertebral fusion, Cataract, Block vertebrae, Tarsal synostos... |
OMIM:272460 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalmia, Retinal dystrophy, Chor... |
ORPHA:2556 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyp... |
OMIM:614702 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Spinal c... |
ORPHA:85451 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Abnormal heart morphology |
ORPHA:1445 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Mitral valve pr... |
ORPHA:90653 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R... |
OMIM:229200 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... |
OMIM:620135 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Cubitus valgus, Knee flexion contracture, Astigmatism, Camptodactyly, Microphthalmia |
OMIM:619694 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Fl... |
OMIM:222765 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia |
OMIM:610247 |
| Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Cataract, Genu valgum, Irregular vertebral endplates, Platyspondyly, Vitreore... |
ORPHA:250984 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Abnormal retinal morphology, Kyphoscoliosis, Camptodactyly of finge... |
OMIM:610758 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Joint hyperflexib... |
ORPHA:2314 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Abnormality of the vertebral column |
OMIM:600776 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... |
ORPHA:2470 |
| Kapur-Toriello Syndrome |
|
Cataract, Ventricular septal defect, Camptodactyly of finger, Short neck, Cryptorchidism, Retinal... |
OMIM:244300 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cataract, Ovarian fibroma, Kyphoscoliosis, Hemivertebrae, Cardiac fibroma, Card... |
OMIM:109400 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Lumbar hyperlordosis, Optic disc coloboma, Opacification o... |
OMIM:169550 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Cataract, Elevated circulating creatine kinase concentration, Scoliosis, Joint cont... |
OMIM:615704 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology |
ORPHA:2522 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Weight loss, Arthritis,... |
ORPHA:183 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Myocarditis, Hepatitis, Weight loss, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
| Papillorenal Syndrome |
|
Joint laxity, Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpi... |
OMIM:120330 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... |
OMIM:616100 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Gracile Bone Dysplasia |
|
Asplenia, Decreased skull ossification, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic splee... |
OMIM:602361 |
| Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Flexion contracture, Optic atrophy, Developmental cataract, Microcornea... |
OMIM:614222 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Wide nasal bridge,... |
ORPHA:3440 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... |
OMIM:236670 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone pain, Osteolysis,... |
ORPHA:93160 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... |
ORPHA:31150 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Coars... |
ORPHA:585 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Joint stiffness, Cryptorchidism, Kyphosis, Optic a... |
ORPHA:2510 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec... |
OMIM:214800 |
| Nance-Horan Syndrome |
|
Microphthalmia, Retinal detachment, Cataract, Microcornea |
ORPHA:627 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Genu varum, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Cataract, Corneal opacity, Short neck, Splenomegaly, Delayed skeletal maturation, K... |
ORPHA:61 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... |
OMIM:618886 |
| Bresek Syndrome |
|
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hemiver... |
ORPHA:85284 |
| X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Scoliosis, Failure to th... |
ORPHA:163937 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
| Atelis Syndrome 1 |
|
Cataract, Ventricular septal defect, Lumbar kyphosis, Anemia, Leukopenia, Atrial septal defect, T... |
OMIM:620184 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Delayed skeletal ma... |
ORPHA:812 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
| Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Cataract, Increased level of galactitol in plasma, Increased leve... |
OMIM:230400 |
| Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma, Abnormal heart morphology |
ORPHA:2185 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Hypoplastic le... |
OMIM:601186 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... |
OMIM:216550 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Coloboma, Abnorm... |
ORPHA:508498 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Coloboma, Peters anomaly, Atri... |
OMIM:618652 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar... |
OMIM:610756 |
| Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c... |
OMIM:614594 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita |
OMIM:616570 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Dilated cardiom... |
ORPHA:231226 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal form of the vertebral bodies, He... |
ORPHA:93399 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Recurrent patellar... |
OMIM:615877 |
| Agammaglobulinemia, X-Linked |
|
Epididymitis, Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Lymph node ... |
OMIM:300755 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Upslanted palpebral fissure, Short nose, Cataract, Corneal opacity |
ORPHA:496790 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Cataract, Elevated circulating creatine kinase concentration, Hyperlordosis, C... |
ORPHA:52430 |
| Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, ... |
ORPHA:228346 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
| Cach Syndrome |
|
Cataract, Flexion contracture, Optic atrophy, Nonketotic hyperglycinemia, Hepatosplenomegaly, Opt... |
ORPHA:135 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Sarcoidosis |
|
Increased T cell count, Leukopenia, Hepatomegaly, Hemolytic anemia, Facial palsy, Portal hyperten... |
ORPHA:797 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Abnormal sp... |
OMIM:208900 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Short neck, Abnormal heart morphology, Astigmatism, Retinal coloboma, Scoliosis, Microp... |
OMIM:618571 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:264700 |
| Duane-Radial Ray Syndrome |
|
Cataract, Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Ventricular septal defect, ... |
OMIM:607323 |
| Sialidosis Type 2 |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
ORPHA:87876 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Retinal pigment epithelial mottling, Cataract, Microphthalmia |
OMIM:614105 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Small for gestational age, Elevated circulating creatine ... |
OMIM:618775 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Retinal detachment, Absent vertebral body mineralization, Catarac... |
ORPHA:93296 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Chops Syndrome |
|
Cataract, Ventricular septal defect, Splenomegaly, Cryptorchidism, Optic atrophy, Obesity, Anomal... |
OMIM:616368 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Osteoporosis, Increased susceptibility to fractures, Retinal calcificat... |
OMIM:259770 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Atrial septal ... |
ORPHA:49827 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conjunctivitis, Neutropenia |
ORPHA:293173 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Retinal pigment epithelia... |
OMIM:219800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration, Buphthalmos, Mic... |
OMIM:616538 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ... |
ORPHA:335 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... |
ORPHA:247691 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:600081 |
| Atelis Syndrome 2 |
|
Sacral dimple, Remnants of the hyaloid vascular system, Thrombocytopenia, Kyphosis, Supravalvar p... |
OMIM:620185 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Re... |
ORPHA:272 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Corneal opacity, Tr... |
OMIM:150250 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Telecanthus, Corneal opacity, Elevated circulating creatine kinase concentration, T... |
OMIM:301056 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem... |
OMIM:620040 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Abnormal retinal morphology, Eosinophilia, Abscess, Abnormality of t... |
ORPHA:228123 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Microphthalmia, Leukemia, Ventricular septal defect |
OMIM:602501 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Elevated ci... |
OMIM:620366 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, F... |
OMIM:609033 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Recurrent fractures, Craniosynostosis, Splenom... |
ORPHA:667 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Atrial septal defect, Microphthalmia, Tetralogy of Fa... |
OMIM:300887 |
| Aicardi Syndrome |
|
Retinal detachment, Cataract, Block vertebrae, Chorioretinal lacunae, Optic disc coloboma, Optic ... |
OMIM:304050 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Galactokinase Deficiency |
|
Hepatomegaly, Cataract, Small for gestational age, Hepatosplenomegaly, Increased level of galacti... |
ORPHA:79237 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Cryptorchidism, Flexion contracture, Optic atrophy, De... |
OMIM:615663 |
| Frontonasal Dysplasia 1 |
|
Cataract, Tetralogy of Fallot, Coloboma, Camptodactyly, Microphthalmia, Joint contracture of the ... |
OMIM:136760 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Epicanthus, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmenta... |
OMIM:618541 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Cholestasis, Hypergalactosemia, Failure to thrive |
ORPHA:570422 |
| Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Optic atrophy, Metopic synostosis, Decreased body w... |
ORPHA:477814 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha... |
ORPHA:2095 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Cataract, Bilateral cryptorchidism, Developmental cataract, Neutropenia, Microphthal... |
OMIM:616395 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Recurrent fractures, Abnormal circulating calcium concentration, Delay... |
OMIM:241530 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect, Cryptorchidism |
ORPHA:3434 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:277440 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy, Craniosynostosis |
ORPHA:1528 |
| Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... |
OMIM:230000 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Dextrocardia, Block vertebrae, Short neck... |
OMIM:613686 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... |
OMIM:212140 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Short neck, Abnormal pupil morphology, Abnormal for... |
ORPHA:233 |
| Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Cataract, Abnormal heart valve morphology, Tar... |
ORPHA:90652 |
| Microphthalmia, Lenz Type |
|
Cataract, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Optic disc coloboma, ... |
ORPHA:568 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentration, Op... |
ORPHA:254886 |
| Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... |
OMIM:615758 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potential... |
OMIM:619260 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:615297 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:614576 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Flexion contracture, Optic atrophy, Microc... |
OMIM:147791 |
| Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Short neck, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Aortic... |
OMIM:243310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... |
OMIM:614643 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Cataract, Abnormal heart valve morphology, Joint stiffne... |
ORPHA:1345 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Hemolytic anemia, Acute pancreatitis, Portal hypertension, Pericardia... |
OMIM:619487 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Short neck, Tetralogy of Fallot, Retinal coloboma, Microphthalmia, Fai... |
ORPHA:2328 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Elevated circulating acylcarnitine concentration, Abnormal circulating creatin... |
OMIM:615838 |
| Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Hip dislocation, Chorioretinal coloboma, Microphthalmia, Iris colo... |
OMIM:218340 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Short neck, Optic atrophy, Punctate vertebral calcifications, Epiphyseal stippling, Apl... |
ORPHA:1914 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... |
ORPHA:275 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia,... |
ORPHA:411629 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... |
OMIM:616959 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Coloboma, Microphthalmia, Cy... |
OMIM:147250 |
| Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Optic atrophy, Elevated circulating phytanic acid concentration, Ank... |
OMIM:614877 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Corneal opacity, Camptodactyly of finger, Joint stiffness, Abnormal re... |
ORPHA:354 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Corneal opacity, Abnormal fingernail morphology, Hypopigmented skin patches, Eyelid col... |
ORPHA:1647 |
| Marinesco-Sjögren Syndrome |
|
Cataract, Avascular necrosis of the capital femoral epiphysis, Optic atrophy, Hip dislocation, Ab... |
ORPHA:559 |
| Stickler Syndrome, Type I |
|
Arthropathy, Retinal detachment, Cataract, Joint stiffness, Kyphosis, Osteoarthritis, Mitral valv... |
OMIM:108300 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Kyphoscoliosis, Short neck, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, H... |
OMIM:302960 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Congenital contracture, Optic atrophy, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:615042 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Adams-Oliver Syndrome |
|
Cataract, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, ... |
ORPHA:974 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Failu... |
OMIM:620157 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega... |
ORPHA:93400 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Abnormality of the abdominal organs, Developmental glaucoma, Generalized hypertr... |
ORPHA:2409 |
| Carpenter Syndrome 1 |
|
Short neck, Microcornea, Atrial septal defect, Spina bifida occulta, Genu varum, Sagittal cranios... |
OMIM:201000 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb... |
OMIM:214300 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Failure to thrive, Macrocytic anemia, Ventricular septal defect, Tracheo... |
OMIM:612561 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Coloboma |
OMIM:613094 |
| Zellweger Syndrome |
|
Hepatomegaly, Epicanthus, Cataract, Corneal opacity, Brushfield spots, Jaundice, Wide nasal bridg... |
ORPHA:912 |
| Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Small for gestational age, Short neck, Muscular ventricular septal defec... |
OMIM:618804 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Increa... |
OMIM:259720 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed epiphyseal ossification, E... |
ORPHA:289157 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity |
OMIM:615272 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorchidism, Cryptorchi... |
OMIM:617796 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
| Netherton Syndrome |
|
Failure to thrive, Hypereosinophilia |
OMIM:256500 |
| Myhre Syndrome |
|
Vertebral fusion, Cataract, Ventricular septal defect, Small for gestational age, Short neck, Per... |
OMIM:139210 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re... |
OMIM:243605 |
| Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Corneal opacity, Asplen... |
ORPHA:99776 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Blepharophimosis, Dow... |
ORPHA:284160 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Optic atrophy, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Short neck, Splenomegaly, Thrombocytopenia, Flexion contracture, Optic atrophy, Ane... |
OMIM:617303 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia,... |
ORPHA:171844 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal ar... |
OMIM:175780 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
| Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Wide nasal bridge, Microcornea, Short nose |
ORPHA:2557 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cachexia, Cardiomegaly, Hyperam... |
ORPHA:42 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Telecanthus, Corneal opacity, Aniridia |
ORPHA:1064 |
| Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
| Trisomy 1Q |
|
Cryptorchidism, Anophthalmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261344 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Joint contracture, Cataract, Optic atrophy, Scoliosis |
OMIM:617481 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
| Myotonic Dystrophy 2 |
|
Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti... |
OMIM:602668 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ocular albinism, Short nose, Anem... |
ORPHA:2719 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Th... |
ORPHA:436159 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula... |
OMIM:614083 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Cryptorchidism, Optic atrophy, Mi... |
ORPHA:3301 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Cataract, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Lim... |
ORPHA:1856 |
| Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Corneal opacity, Cataract, Optic... |
ORPHA:141099 |
| Werner Syndrome |
|
Low back pain, Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Osteoporosis, Reduced bon... |
OMIM:277700 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Megalocornea, Hepatomegaly, Thorac... |
OMIM:252500 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormali... |
ORPHA:79432 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Hypophosphatemia, Parathyroid adenoma, Ch... |
ORPHA:99879 |
| Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Scoliosis, Cardiomegaly |
ORPHA:3137 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, Hyperalaninemia, H... |
ORPHA:254913 |
| Joubert Syndrome 21 |
|
Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla, Retinopathy |
OMIM:615636 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesit... |
OMIM:615418 |
| Warburg Micro Syndrome 2 |
|
Cataract, Cryptorchidism, Flexion contracture, Optic atrophy, Developmental cataract, Microcornea... |
OMIM:614225 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Cryptorchidism, Dilated cardiomyo... |
OMIM:610198 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Cryptorchidism, K... |
OMIM:130720 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... |
ORPHA:414 |
| Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia, Coloboma |
OMIM:615665 |
| Optic Atrophy 11 |
|
Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Cherry red spot of the macu... |
OMIM:617302 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Cataract, Retinal dystrophy,... |
ORPHA:168549 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cataract |
OMIM:615184 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly... |
ORPHA:90324 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Ret... |
ORPHA:391428 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R... |
OMIM:221900 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Bull's eye maculopathy,... |
OMIM:213980 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... |
ORPHA:83313 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Overweight, Persistence of hemoglobin F, Astigmatism, Increased size o... |
OMIM:619769 |
| Charge Syndrome |
|
Anophthalmia, Facial palsy, Cryptorchidism, Optic atrophy, Hemivertebrae, Abnormal cardiac septum... |
ORPHA:138 |
| Squalene Synthase Deficiency |
|
Epicanthus, Increased circulating farnesol concentration, Decreased LDL cholesterol concentration... |
OMIM:618156 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op... |
ORPHA:50 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:614219 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocy... |
ORPHA:505248 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Decreased circulating total... |
OMIM:607143 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Spinal rigidity, Bu... |
OMIM:613150 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Microcornea, Coloboma, Iris transillumination defect, O... |
OMIM:617306 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Cockayne Syndrome |
|
Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepat... |
ORPHA:191 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
| Rodrigues Blindness |
|
Microcornea, Sparse hair, Sclerocornea, Fine hair |
OMIM:268320 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bodies, Reduced bo... |
ORPHA:581 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Mogs-Cdg |
|
External genital hypoplasia, Decreased circulating antibody level, Hydrocele testis, Decreased ci... |
ORPHA:79330 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
| Dpm1-Cdg |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kinase concentration, Optic atroph... |
ORPHA:79322 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... |
ORPHA:90362 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short nose, Corneal opacity |
OMIM:618961 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, Ab... |
ORPHA:371428 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Hypospadias, Abn... |
ORPHA:84 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Abnormal cardiac se... |
ORPHA:3320 |
| Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Kyphoscoliosis, Flexion ... |
ORPHA:35173 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... |
ORPHA:449395 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Vitreous floaters, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system p... |
ORPHA:85447 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Bone pain, Reduced... |
ORPHA:157215 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Downslanted palpebral fissures, Thick hair, Corneal opacity |
ORPHA:357058 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Rieger anomaly, Sacral dimple, Ventricular septal defect, Sma... |
OMIM:194190 |
| Distal Deletion 13Q |
|
Optic atrophy, Abnormal form of the vertebral bodies, Abnormal cardiac septum morphology, Aplasia... |
ORPHA:1590 |
| Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Hypoparathyroidism, Abn... |
ORPHA:567 |
| Vici Syndrome |
|
Lymphopenia, Failure to thrive, Cataract, Macular atrophy, Elevated circulating creatine kinase c... |
OMIM:242840 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Short neck, Hypocalcemia, Microphthalmia |
ORPHA:1438 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, Cervical C2/C3 vertebra... |
OMIM:616549 |
| Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism, Hepatic fibrosis, Scoliosis |
OMIM:612285 |
| Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Cryptorchidism |
OMIM:601349 |
| Congenital Myopathy 8 |
|
Scoliosis, Cardiomegaly |
OMIM:618654 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Bilateral ptosis, Splenomegaly, Enlarged tonsils, Wide nasal bridg... |
OMIM:607014 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Arthritis, Conjunctivitis, An... |
ORPHA:575 |
| Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2189 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Anophthalmia, Elbow dislocation, Abnormality of the spleen, Atrial septal defect, M... |
ORPHA:2538 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Cockayne Syndrome B |
|
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the ... |
OMIM:133540 |
| Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, ... |
ORPHA:579 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, O... |
ORPHA:425 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
| Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
| Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ... |
OMIM:606519 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract |
ORPHA:3173 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Rickets, Bone pain, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Wide nasal... |
OMIM:193500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cataract, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated... |
OMIM:608836 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmet... |
OMIM:252920 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Short neck, Accelerated ... |
OMIM:245600 |
| Angiostrongyliasis |
|
Stiff neck, Hypereosinophilia |
ORPHA:74 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Conjugated hyperbilirubinemia, Atrial septal defect, Intrahe... |
OMIM:614866 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Optic atrophy, Hypoplastic vertebral bodies, Platysp... |
OMIM:230600 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, V... |
ORPHA:79345 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Abnormality of the thyroid gland, Prostatitis, In... |
ORPHA:449432 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Short neck, Craniosynostosis, Camptodactyly of... |
ORPHA:251038 |
| Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Microcornea, Macular degeneration, Co... |
ORPHA:33364 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Osteomalacia,... |
OMIM:309000 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Hypospadias, Decreased circulating IgA level |
ORPHA:457485 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration |
ORPHA:370997 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Cataract, Morning glory anomaly, Optic atrophy, Temporal optic disc pallor |
ORPHA:98673 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Cataract, Hyperlordosis, Right ventricular dilatation, Abnormal circulating creatin... |
ORPHA:369840 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Rod-con... |
OMIM:615986 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
| Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis |
OMIM:620195 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Opac... |
OMIM:251300 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cataract, Elevated circulating creatine kinase concentration, Pigmentary re... |
ORPHA:79095 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
| Monosomy 9Q22.3 |
|
Cataract, Ovarian fibroma, Large for gestational age, Short neck, Accelerated skeletal maturation... |
ORPHA:77301 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Cryptorchidism, Flat acetabular roof, Fused cervical ve... |
OMIM:617159 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, A... |
OMIM:617713 |
| Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Cataract |
OMIM:614879 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
| Carpenter Syndrome |
|
Craniosynostosis, Kyphoscoliosis, Cryptorchidism, Obesity, Genu valgum, Abnormal cornea morpholog... |
ORPHA:65759 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Bone pain, Spinal canal... |
OMIM:307800 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Prominent metopic ridge, Lumbar hyperlordosis, Cryptorchidism, Obesity, Microphthal... |
OMIM:619185 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Obesity, Coloboma |
ORPHA:141333 |
| Distal Deletion 6P |
|
Epicanthus, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Generalized joint laxity, Delayed skeletal maturation, Pigmentary retinopathy,... |
ORPHA:502423 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:234050 |
| 2Q31.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Short neck, Cryptorc... |
ORPHA:251014 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia, Cryptorchidism, Delayed skeletal maturation, Genu valgum, Abnormal optic disc ... |
ORPHA:293967 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:608885 |
| Microphthalmia With Limb Anomalies |
|
Tarsal synostosis, Elbow dislocation, Cryptorchidism, Optic atrophy, Hip dislocation, Abnormal fo... |
ORPHA:1106 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Short nose, Cafe-au-lait spot,... |
ORPHA:364577 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hepatocellular carcinoma, Rickets, Increased hepa... |
ORPHA:2088 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Decreased c... |
OMIM:615577 |
| Martsolf Syndrome 1 |
|
Joint laxity, Thoracic scoliosis, Cataract, Lumbar hyperlordosis, Avascular necrosis of the capit... |
OMIM:212720 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gestational ag... |
OMIM:260400 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Large for gestational age, Pericardial effusion, C... |
OMIM:239850 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Axona... |
ORPHA:404454 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Developme... |
OMIM:613154 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Stt3B-Cdg |
|
Cryptorchidism, Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr... |
ORPHA:411634 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Cerebrooculonasal Syndrome |
|
Iris coloboma, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis |
OMIM:605627 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Generalized joint lax... |
OMIM:618000 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Bicuspid aortic valve, Bilateral microphthalmos, Hemivertebrae, Unilateral microph... |
OMIM:619318 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atroph... |
OMIM:251900 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypopho... |
OMIM:156400 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Telecanthus, Epicanthus, Pigmentary retinopathy, Frontal upsweep of hair, Axenfeld anomaly, Opaci... |
OMIM:612582 |
| Fucosidosis |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior b... |
ORPHA:349 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Wide nasal bridge, Pigmentary retinopathy, Downslanted palpeb... |
OMIM:614230 |
| Oncogenic Osteomalacia |
|
Neurofibroma, Bone pain, Increased susceptibility to fractures, Hypocalcemia, Hypophosphatemia, P... |
ORPHA:352540 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Ventricular septal defect, Pure red cell aplas... |
ORPHA:124 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Rod-co... |
OMIM:612674 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic atrophy, Cont... |
ORPHA:329178 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
| 3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Kyphosis, Optic atrophy,... |
ORPHA:7 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cataract, Cryptorchidism, Microphthalmia, Iris coloboma |
ORPHA:2250 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... |
OMIM:203500 |
| Steinfeld Syndrome |
|
Absent gallbladder, Abnormal heart morphology, Abnormality of the vertebral column, Retinal colob... |
OMIM:184705 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Lymphatic Filariasis |
|
Ankle swelling, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, ... |
ORPHA:2035 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Patent... |
OMIM:620005 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal de... |
OMIM:618494 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Cataract, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... |
ORPHA:42775 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short nose, Downslanted palpebral fissures, Opacification of the corneal stroma |
OMIM:601853 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
| Mend Syndrome |
|
Sacral dimple, Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydroc... |
ORPHA:401973 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Osteomyelitis, ... |
ORPHA:88628 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Tarsal synostosis, Abnormally large globe, Abnormal lens morphol... |
ORPHA:363417 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short neck, Microcytic anemia, Cryptorchidism, Flexion contracture, Failure to thrive, HbH hemogl... |
ORPHA:98791 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Short nose, Fair hair, Blue irides |
OMIM:614613 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Ventricular septal defect, Kyphosis, Microcornea, Scoliosis, Atrial septal defect, Micr... |
OMIM:616449 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Osteomalacia, Intrahepatic cholestasis, Rickets, Hypophosphatemia, Hy... |
OMIM:227810 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopathy, Increased ... |
OMIM:615934 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, En... |
OMIM:300554 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Wide nasal bridge, Microcornea, Opacification of the corneal stroma, Anterior chambe... |
OMIM:601499 |
| Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Corneal opacity, Recurrent fractures, Hyperextensibility of the kn... |
OMIM:601812 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Hyperlo... |
ORPHA:268 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Decreased circulating total IgM, Chromosomal breakage induced by ion... |
ORPHA:420741 |
| Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus |
OMIM:143890 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia,... |
OMIM:620155 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Testicular neoplasm, Osteomalac... |
ORPHA:249 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... |
ORPHA:331235 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, W... |
ORPHA:163746 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Genu valgum, Hypophosphatemia |
OMIM:618913 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Craniosynostosis |
ORPHA:1553 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice... |
OMIM:615512 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Cryptorchidism, Kyphosis, Dysplastic tricuspid valve... |
ORPHA:1724 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short neck, Cryptorchidism, Bilateral microphthalmos, Abnormal heart m... |
ORPHA:369891 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Cataract, Facial palsy, Supernumerary nipple, Short neck, Hyperlordosis, Cryptorchi... |
OMIM:113620 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Neutropenia, Anemia, Decreased circulating antibody level |
ORPHA:175 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Vertebral fusion, Congenital hip dislocation, Ventricular septal defect, Hepatoblas... |
ORPHA:373 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Hirsutism |
OMIM:607015 |
| Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Poorly ossified vertebrae, Epiphyseal stippling, Chorioretinal coloboma, Micropht... |
OMIM:619135 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal ero... |
ORPHA:920 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
| Focal Dermal Hypoplasia |
|
Joint laxity, Anophthalmia, Congenital hip dislocation, Supernumerary nipple, Ectopia lentis, Cry... |
OMIM:305600 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
| Dubowitz Syndrome |
|
Sacral dimple, Aplastic anemia, Cryptorchidism, Delayed skeletal maturation, Hypoplasia of the ir... |
OMIM:223370 |
| Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Wide nasal bridge, Abnor... |
ORPHA:93473 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Camptodactyly of finger, Bilateral microphthalmos, Prominent protruding coc... |
ORPHA:2839 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Situs inversus totalis, Posterior subcapsular cataract, Rod-c... |
OMIM:615434 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Bone pain, Rickets, Hypophosphatemia... |
OMIM:612089 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hypermelanotic macule, Thrombocytopenia, Hyperlipidemia, Decreased proportion of... |
ORPHA:1830 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive |
ORPHA:99931 |
| Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Pericardial effusion, Weight loss, L... |
ORPHA:2905 |
| Dent Disease |
|
Enlargement of the ankles, Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase... |
ORPHA:1652 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Stevenson-Carey Syndrome |
|
Coloboma, Scoliosis, Camptodactyly, Atrial septal defect, Microphthalmia, Joint contracture of th... |
OMIM:611961 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Delayed cranial suture closure,... |
OMIM:105650 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
| Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Corneal opacity, Synophrys, Hirsutism, Wide nasal bridge, Upslanted palpebral fissure... |
ORPHA:488632 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Megaloblastic anemia, Thrombocytopen... |
ORPHA:79282 |
| Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
| Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Corneal opacity, Recurrent... |
ORPHA:1764 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Camptodactyly of finger... |
ORPHA:3380 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Small for gestational age, Ventricular septal defect, Fractured radius, Cardiomegaly,... |
OMIM:616897 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Epicanthus, Thick eyebrow, Corneal opacity, Splenomegaly, Coarse hair, Hirsutism |
OMIM:253220 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Farber Disease |
|
Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Hepatosplenom... |
ORPHA:333 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Joint contracture of the 4th finger, Joint contracture of the 5th finger, Pulmonic... |
OMIM:618914 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Corneal opacity, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized ... |
ORPHA:79396 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Cataract, Congenital hip dislocation, Splenomegaly, Optic a... |
OMIM:617913 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
| Xfe Progeroid Syndrome |
|
Cachexia, Optic atrophy, Corneal scarring, Hypoalbuminemia, Scoliosis, Failure to thrive, Attenua... |
OMIM:610965 |
| Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Hepatomegaly, Epicanthus, Absent platelet dense granules, Albinis... |
OMIM:608233 |
| Hallermann-Streiff Syndrome |
|
Cataract, Small for gestational age, Wormian bones, Hyperlordosis, Cryptorchidism, Optic disc col... |
OMIM:234100 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microphthalmia |
OMIM:610651 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Large for gestational age, Rickets, Hypophosphatemia |
OMIM:616026 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin, Cholestasis |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin, Cholestasis |
ORPHA:71526 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opaci... |
OMIM:256800 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic ... |
OMIM:616433 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Ptosis |
ORPHA:53271 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal... |
OMIM:613001 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Marden-Walker Syndrome |
|
Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Congenital contracture, Radioulnar synostosis... |
OMIM:248700 |
| Frontorhiny |
|
Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Scoliosis, Microphthalmia, Hypopituitari... |
ORPHA:391474 |
| Wilson Disease |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Kayser-Fleischer ring, Cirrhos... |
ORPHA:905 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Bone pain, Hypophospha... |
OMIM:600740 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Joint stiffness, Optic atrophy, Cardiomyopathy, Ab... |
ORPHA:1493 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Hypophosphatemia |
OMIM:613388 |
| Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Retinal degeneration, Papi... |
ORPHA:580 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,... |
ORPHA:906 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Delayed ske... |
OMIM:613320 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia... |
ORPHA:2714 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal ... |
ORPHA:324 |
| 1Q21.1 Microdeletion Syndrome |
|
Cataract, Cryptorchidism, Joint hyperflexibility, Abnormal cardiac septum morphology, Scoliosis, ... |
ORPHA:250989 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Corneal opacity, Cardiomegaly, Optic atrophy, Polycystic... |
ORPHA:137675 |
| Opsismodysplasia |
|
Short neck, Hypoplasia of the odontoid process, Flat acetabular roof, Hypoplastic vertebral bodie... |
OMIM:258480 |
| Apert Syndrome |
|
Corneal erosion, Optic atrophy, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm, Vertebral segm... |
ORPHA:87 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Facial palsy, Optic... |
OMIM:620186 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga... |
ORPHA:171 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Retinopathy, Cryptorchidism |
ORPHA:2505 |
| Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Coloboma, Lambdoidal ... |
OMIM:607932 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Joint hyperflexibility, Six lumbar vertebrae, Subvalvular aortic stenosis, Microphthalm... |
ORPHA:65286 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... |
OMIM:615688 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Flexion c... |
OMIM:256040 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Caudal Regression Syndrome |
|
Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, ... |
ORPHA:3027 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Hypopigmentation of the skin, Alopecia, Corneal opacity |
OMIM:163200 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma, Short neck |
OMIM:614583 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... |
OMIM:300578 |
| Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
ORPHA:93474 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
| Viss Syndrome |
|
Generalized joint laxity, Right ventricular dilatation, Atrial septal defect, Patent foramen oval... |
OMIM:619472 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Cryptorchidism, Delayed skeleta... |
ORPHA:264200 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... |
OMIM:618052 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Short neck, Conjugated hyperbilirubinemia, Jaundice, Hepa... |
ORPHA:168577 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Loss of... |
OMIM:263700 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
| Dent Disease 1 |
|
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
OMIM:300009 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Infertility, Delayed puberty, Type I diab... |
OMIM:212750 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Cryptorchidism, Kyphosis, Abnormal heart morphology, Scoliosis, Microp... |
ORPHA:404440 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased body we... |
OMIM:608013 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia |
OMIM:104200 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal de... |
OMIM:214100 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Wide nasal bridge |
ORPHA:89844 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoplastic female external genitalia, Decreased circulating IgA level, Decreased circulating ant... |
OMIM:606056 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
| Blau Syndrome |
|
Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morpholo... |
ORPHA:90340 |
| Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Chorioretin... |
ORPHA:744 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Morning glory anomaly, Optic atrophy, Coloboma, Microphthalmia |
OMIM:614424 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, Ocular albinism, Reduced bone mineral density, Hypochromic ... |
ORPHA:2720 |
| Lathosterolosis |
|
Hepatomegaly, Epicanthus, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal plate... |
ORPHA:46059 |
| Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscular ventricular septal defect, D... |
ORPHA:66634 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Ocular albinism, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Cryptorc... |
OMIM:268310 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Abnormal vertebral morphology |
ORPHA:261272 |
| Focal Dermal Hypoplasia |
|
Ventricular septal defect, Corneal opacity, Camptodactyly of finger, Ectopia lentis, Hypoplasia o... |
ORPHA:2092 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Cataract, Kyphoscoliosis, Developmental glaucoma... |
ORPHA:99956 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Abnormal erythrocyte enzyme level, Optic... |
ORPHA:1187 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Atrial septal defect, Cervica... |
OMIM:617190 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Biliary atresia, Hypoplastic left heart, Total anomalous pulmonary ven... |
OMIM:115470 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217085 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Aganglionic megacolon, Lumbar hyperlordosis, Kyphoscoliosis,... |
OMIM:309800 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Splenomegaly, Kyphosis, Craniofacial osteosc... |
ORPHA:1328 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Alopecia, Sparse scalp hair, Alopecia totalis, Cicatricial lagophthal... |
OMIM:263650 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Kyphosis, Developmental cataract, Microcornea, Scoliosis, Atrial septa... |
ORPHA:464738 |
| Cushing Disease |
|
Lymphopenia, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Osteoporosi... |
ORPHA:96253 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Retinal atrophy, Ulnar deviation of the wrist, Cardio... |
ORPHA:97297 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae, Joint hypermobility |
OMIM:617101 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Delayed skeletal maturation, ... |
ORPHA:330015 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Pigmentary retinopathy, Pete... |
OMIM:309801 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Diffuse hepatic steatosis, Hypertrophic card... |
ORPHA:436271 |
| Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morpholog... |
OMIM:219000 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal heart valve morphology, ... |
OMIM:309900 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Atrial septal defect, Bilateral cryptorchidism, Obesity, Astigmatism, Retinal vascul... |
OMIM:619471 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
| Moebius Syndrome |
|
Epicanthus, Corneal opacity, Breast aplasia, Multiple cafe-au-lait spots, Blepharitis, Ptosis |
ORPHA:570 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Optic ... |
OMIM:268315 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
| Alagille Syndrome 1 |
|
Hemivertebrae, Microcornea, Atrial septal defect, Abnormal anterior chamber morphology, Chorioret... |
OMIM:118450 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Bone ... |
ORPHA:143 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Mi... |
OMIM:300952 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Wide cranial sutures, Cataract, Delayed skeletal maturation, Microcornea, Persistent pupillary me... |
OMIM:257850 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Fractures of the long b... |
ORPHA:157850 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... |
ORPHA:2959 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Mitral valve calcification, Pancytopenia, Corneal opacity, Cachexia, Splenomegaly, A... |
ORPHA:2072 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
| Fumarase Deficiency |
|
Conjunctival icterus, Intrahepatic cholestasis, Optic atrophy, Perimembranous ventricular septal ... |
OMIM:606812 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... |
ORPHA:3453 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Ankle clonus, Scoliosis, Sensory... |
OMIM:609541 |
| Oculoectodermal Syndrome |
|
Epicanthus, Supernumerary nipple, Hyperpigmented streaks, Wide nasal bridge, Microcornea, Eyelid ... |
OMIM:600268 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic... |
OMIM:269200 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Increased bone mineral density, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs,... |
ORPHA:289176 |
| Moebius Syndrome |
|
Short neck, Facial diplegia, Camptodactyly, Microphthalmia, Arthrogryposis multiplex congenita, D... |
OMIM:157900 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Cataract, Ectopia lentis, Cubitus valgus, Spherophakia, Anterior syne... |
OMIM:601552 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Ventricular septal defect, Small for gestational age, Kyphoscoliosis, C... |
ORPHA:97360 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short ... |
OMIM:617022 |
| Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Arthritis, Cholestatic liver disease... |
ORPHA:92050 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Optic atrophy, Obesity, Elbow flexion contracture, Genu valgum, Astigm... |
OMIM:618493 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Hepatic steatosis |
ORPHA:70472 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Osteoporosis, Ankle clonus, Abnormal circulating cholesterol concent... |
OMIM:213700 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia, Peters anomaly |
OMIM:614526 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Optic atrophy, Pigmentary retinopathy, Hyp... |
OMIM:220110 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Optic nerve compression, Hypoca... |
OMIM:612301 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... |
OMIM:300972 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Macrovesicular hepatic steatosis... |
OMIM:618329 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Hypermelanotic macule, Thrombocytopenia, Wide nasal bridge, Fine hair, Abnormal T c... |
OMIM:242900 |
| Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Hepatomegaly, Recurrent fractu... |
ORPHA:394 |
| Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, Flexion contracture,... |
ORPHA:847 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Thoracic scoliosis, Ventricular septal defect, Camptodactyly of finger, Elbow f... |
ORPHA:1692 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Craniosynostosis, Short neck, Cryptorchidism, Patella... |
ORPHA:3103 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ... |
ORPHA:2298 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Ventricular septal defect, Cryptorchidism, Optic atrophy, Coloboma, Scolios... |
OMIM:616975 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Small for gestational age, Flexion contracture, Microcornea, Keratoconjunctivitis sicca... |
OMIM:601675 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... |
OMIM:171480 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Vertebral segmentation defect, S... |
OMIM:612530 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, Scoliosis,... |
ORPHA:435638 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... |
ORPHA:363705 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Optic atrophy, Osteoporosis, Increased susceptibility to frac... |
OMIM:612199 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anterior hairline, Hirsutism, ... |
ORPHA:495875 |
| Intermediate Uveitis |
|
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Bifid thoracic vertebrae, Chorioretinal coloboma, Tracheomalacia, Micr... |
ORPHA:268249 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... |
OMIM:268800 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Flexion contracture of finger, Ventricular septal defect, ... |
ORPHA:464311 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Kyphoscoliosis, Cryptorchidism, Kyphosis, Reduced alpha/beta synthesis... |
OMIM:301040 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Thrombocytosis, Decreased circul... |
OMIM:212065 |
| Cockayne Syndrome A |
|
Hepatomegaly, Hip contracture, Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnorm... |
OMIM:216400 |
| Monosomy 18Q |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Micropenis, Hypothyroidism, Secondary growth ... |
ORPHA:1600 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lympho... |
ORPHA:508542 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Joint laxity, Craniosynos... |
ORPHA:309282 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... |
ORPHA:268882 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
| Chime Syndrome |
|
Epicanthus, Corneal opacity, Fine hair, Upslanted palpebral fissure, Acute leukemia, Sparse hair,... |
ORPHA:3474 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Biotinidase Deficiency |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Conjunctivitis |
OMIM:253260 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Optic disc pallor, Kyphoscoliosis, Short neck, Acanthocytosis, Flexion contrac... |
OMIM:618947 |
| Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posterior subcapsular catara... |
OMIM:605822 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Hypersplenism, Splenomegaly, Type I diabetes mellitus, Hypothyroidism, Hashimoto th... |
OMIM:613385 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Small for gestational age, Congenital hip dislocation, Kyphoscoliosis, Cryptorchidism, ... |
OMIM:268400 |
| De Barsy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Sparse hair, Downslanted palpebral fissures |
ORPHA:2962 |
| Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, D... |
OMIM:267750 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... |
OMIM:264480 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... |
ORPHA:3322 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Ocular albinism |
ORPHA:1352 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Bone ... |
ORPHA:99880 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal nasolacrimal system morphology, Corneal opaci... |
ORPHA:2273 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Choroidal neovascularization, Failure to thrive... |
ORPHA:51608 |
| Cousin Syndrome |
|
Dislocation of the femoral head, Short neck, Humeroradial synostosis, Prominent protruding coccyx... |
OMIM:260660 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:2547 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Telecanthus, Dry hair, Hypopigmentation of hair, Widow's peak, Upslanted palpebral fissure, Coars... |
ORPHA:1974 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Hartsfield Syndrome |
|
Microphthalmia, Craniosynostosis |
ORPHA:2117 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity, Hepatitis |
ORPHA:584 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Kyphosis, Corneal ulceration, Conjunctivitis, Recurrent corneal erosio... |
OMIM:153400 |
| Gapo Syndrome |
|
Keratoconus, Hepatomegaly, Facial palsy, Delayed closure of the anterior fontanelle, Delayed cran... |
OMIM:230740 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
OMIM:272200 |
| Hermansky-Pudlak Syndrome |
|
Cataract, Abnormality of thrombocytes, Ocular albinism, Weight loss, Cardiomyopathy, Astigmatism,... |
ORPHA:79430 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Vertebral segmentation defect, Joint stiffness |
ORPHA:1915 |
| Dpagt1-Cdg |
|
Hepatomegaly, Rod-cone dystrophy, Flexion contracture, Optic atrophy, Osteoporosis, Developmental... |
ORPHA:86309 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A... |
ORPHA:2396 |
| Joubert Syndrome 2 |
|
Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Metopic synostosis, Microphthalmi... |
OMIM:608091 |
| Monosomy 18P |
|
Microphthalmia, Kyphoscoliosis, Short neck |
ORPHA:1598 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Cholestasis, Hyperbilirubinemia |
OMIM:609734 |
| Fryns Syndrome |
|
Aganglionic megacolon, Corneal opacity, Short neck, Cryptorchidism, Abnormal cardiac septum morph... |
ORPHA:2059 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Dysosteosclerosis |
|
Increased bone mineral density, Ventricular septal defect, Recurrent fractures, Optic atrophy, Hy... |
ORPHA:1782 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal vertebral morphology, Abnormal heart valve morphology, Sclerocornea, Cryp... |
ORPHA:280 |
| Kbg Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Delayed skeletal maturation, Vertebral arch anomaly... |
OMIM:148050 |
| Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy... |
ORPHA:509 |
| Knobloch Syndrome |
|
Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Abnormal vitreous humor morphology, M... |
ORPHA:1571 |
| Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Cataract, Cryptorchidism, Abnormality of the vertebral column, Hypoplasia of ... |
ORPHA:861 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Back pain, P... |
ORPHA:892 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... |
ORPHA:636 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Entropion, Cataract, Hypermelanotic macule, Keratitis, Hyp... |
ORPHA:910 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Dysgammaglobulinemia, T lymphocytop... |
OMIM:251260 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Cataract, Large for gestat... |
ORPHA:500095 |
| Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Cryptorchidism, Pineal cyst, Abnormal optic disc morpho... |
OMIM:617516 |
| Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level, Thyroiditis |
ORPHA:2137 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S... |
OMIM:619381 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Prominent metopic ridge, Elevated circulating alpha-fetoprotein concentration, Card... |
ORPHA:116 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate, Short neck, ... |
OMIM:249000 |
| Brucellosis |
|
Liver abscess, Lung abscess, Orchitis, Hypersplenism, Leukocytosis, Epididymitis, Thrombocytopeni... |
ORPHA:1304 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples, Short neck |
OMIM:156610 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Hepatic fibr... |
OMIM:615273 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Acute leukemi... |
ORPHA:647 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Large for gestationa... |
OMIM:229850 |
| Degcags Syndrome |
|
Osteopenia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Hepat... |
OMIM:619488 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Osteolysis, Acute lymphoblastic leukemia, Subvalvular aortic stenosis,... |
ORPHA:1052 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Diabetes mellitus, Liver abscess, Epididymitis, Decreased circulating total IgM, Decreased circul... |
ORPHA:183675 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Muscular ventricular septal defect, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Tyrosinemia Type 2 |
|
Corneal opacity, Abnormality of the nail |
ORPHA:28378 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Supernumerary nipple, Joint contracture of the 5th finger, Scoliosis, Microphthalmia |
OMIM:620098 |
| Oculodentodigital Dysplasia |
|
Cataract, Cubitus valgus, Hip dislocation, Microcornea, Joint contracture of the 5th finger, Atri... |
OMIM:164200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, Fl... |
ORPHA:365 |
| Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... |
OMIM:260920 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Osteopenia, Cardiomegaly, Delayed skeletal maturation, Abnormal thymus morphol... |
ORPHA:2463 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Genu... |
OMIM:619321 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory ... |
ORPHA:909 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Contracture of the d... |
ORPHA:83617 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Accelerated skeletal maturation, Short n... |
ORPHA:1517 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, R... |
OMIM:615219 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Muscular ventricul... |
OMIM:157800 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Limited elbow movement, Sagittal craniosynostosis, C... |
OMIM:101200 |
| Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... |
OMIM:614077 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Joint hypermobility |
OMIM:607597 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Platyspondyly, Decreased skull ossification |
OMIM:300863 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Ventricular septal defect, Decreased response to growth hormone stimulation test, Wormi... |
ORPHA:444077 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Short neck, Hypophosphatemia |
OMIM:259775 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
| Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Corneal opacity, Posterior subcapsular cataract, Megalocornea, Downslanted pal... |
ORPHA:536471 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Craniosynostosis, Cryptorchidism, Optic atrophy, Hip dislocation, Patell... |
ORPHA:3132 |
| Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Thrombocytop... |
OMIM:251290 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Failure to thrive, Iris coloboma |
OMIM:618874 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Mildly elevated creatine kinase, Elevated circulating... |
ORPHA:95433 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Cardiomegaly, Amyloid deposition in the vitreous humor, Cardiomyopa... |
OMIM:105210 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Prominent metopic ridge, Small for gestational age, Cryptorchidism, Pulmonic stenosis, Camptodact... |
OMIM:619148 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
| Halperin-Birk Syndrome |
|
Flexion contracture, Optic atrophy, Hip dislocation, Developmental cataract, Perimembranous ventr... |
OMIM:618651 |
| Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Hip dislocation, Chorioretinal c... |
OMIM:613884 |
| Seckel Syndrome 2 |
|
Microphthalmia, Small for gestational age |
OMIM:606744 |
| Galloway-Mowat Syndrome 3 |
|
Hip dislocation, Hypoalbuminemia, Camptodactyly, Microphthalmia, Failure to thrive |
OMIM:617729 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Bone pain, Weight loss, Hypophosphatemia, Increased s... |
ORPHA:3337 |
| Marfan Syndrome |
|
Bicuspid aortic valve, Genu recurvatum, Flexion contracture, Increased axial length of the globe,... |
OMIM:154700 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Scoliosis, Microphthalmia, Iris coloboma |
ORPHA:1236 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism |
OMIM:252600 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Multiple joint contractures, Small for gestational age, Ventricular septal def... |
ORPHA:464306 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger |
OMIM:616920 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Developmental gl... |
ORPHA:51 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Acetabular dysplasia, Iris atrophy, Optic atrophy |
OMIM:201180 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Linear Nevus Sebaceus Syndrome |
|
Genu recurvatum, Vertebral segmentation defect, Adenoma sebaceum, Microphthalmia, Iris coloboma |
ORPHA:2612 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,... |
OMIM:610505 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot, Short palpe... |
OMIM:608670 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Elsahy-Waters Syndrome |
|
Cataract, Bilateral cryptorchidism, Phthisis bulbi, Increased cup-to-disc ratio, Cervical C2/C3 v... |
OMIM:211380 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Cryptorchi... |
OMIM:617137 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Ventricular septal defect, Tracheomalacia, Short neck, Craniosynostosis, Cryptorch... |
ORPHA:96121 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Stickler Syndrome |
|
Joint dislocation, Osteoarthritis, Bone pain, Abnormal form of the vertebral bodies, Reduced bone... |
ORPHA:828 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Patent ductus arteriosus, Decreased circulating total IgM, Annular pancreas, Decreased serum insu... |
OMIM:618162 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Hirsutism |
OMIM:259600 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Cryptorchidism, Elbow dislocation, Knee dislocation, Fused ce... |
OMIM:108720 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Vertebral segmentation defect, Microphthalmia, Cyclopia, Te... |
ORPHA:3186 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Hemivertebrae, Transposition of the great arteries, Cervic... |
ORPHA:1780 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Coronal craniosynostosis, Cryptorchidism |
ORPHA:228390 |
| Momo Syndrome |
|
Short neck, Large for gestational age, Bilateral microphthalmos, Obesity, Chorioretinal coloboma,... |
ORPHA:2563 |
| Fructose Intolerance, Hereditary |
|
Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Cirr... |
OMIM:229600 |
| 1P36 Deletion Syndrome |
|
Failure to thrive, Cataract, Abnormal heart valve morphology, Camptodactyly of finger, Joint stif... |
ORPHA:1606 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Sclerocornea, Abnormal eyelash morphology, Abnorm... |
ORPHA:818 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card... |
OMIM:620306 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Scoliosis,... |
OMIM:618143 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Microphthalmia, Bile duct proliferation, Ventricular septal defect |
OMIM:611134 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Corneal opacity, Hypopigmented skin patches |
ORPHA:96061 |
| Renpenning Syndrome 1 |
|
Cataract, Ventricular septal defect, Situs inversus totalis, Coloboma, Joint contracture of the h... |
OMIM:309500 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffus... |
ORPHA:64744 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Sacral dimple, Cataract, Remnan... |
OMIM:619539 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Cryptorchidism, Hyperextensible hand joints, Camptodactyly, Vertebral fusion |
OMIM:227330 |
| Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormality of skin pigmentation, Conjunctivitis, Abnormal toenail morphology, A... |
ORPHA:2908 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Th... |
ORPHA:391487 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Platyspondyly |
ORPHA:163966 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Prominent metopic ridge, Cataract, Bicuspid aortic valve, Sutural cataract, Short n... |
OMIM:612474 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Osteolysis, A... |
ORPHA:3042 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Decreased circulating total IgM... |
ORPHA:369837 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Beck-Fahrner Syndrome |
|
Accelerated skeletal maturation, Ventricular septal defect, Joint hypermobility, Cardiomegaly |
OMIM:618798 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Cryptorchidism, Optic atrophy, Osteoporosis, Anem... |
OMIM:305000 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Corneal opacity, Elevated circulating C-reactive protein concentratio... |
ORPHA:355 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Hyperinsulinemia, Decreased circulating IgA level |
OMIM:613327 |
| Blau Syndrome |
|
Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Arthritis, Joint sw... |
OMIM:186580 |
| Primary Hyperoxaluria |
|
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Recurrent fractures, Generalized ... |
ORPHA:416 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
| Craniofacial Microsomia 1 |
|
Anophthalmia, Ventricular septal defect, Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, ... |
OMIM:164210 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Prominent metopic ridge, Multiple joint contractures, Optic nerve hypoplasia, ... |
ORPHA:468631 |
| Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... |
ORPHA:297 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Ventricular septal defect, Decreased response to growth hormone stimulation t... |
OMIM:146510 |
| Fraser Syndrome |
|
Microphthalmia, Vertebral segmentation defect, Anophthalmia, Cryptorchidism |
ORPHA:2052 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender b... |
OMIM:300967 |
| Yunis-Varon Syndrome |
|
Wide cranial sutures, Cataract, Ventricular septal defect, Absent sternal ossification, Sclerocor... |
ORPHA:3472 |
| Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Hirsutism |
OMIM:253200 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair |
OMIM:619869 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Monosomy 13Q14 |
|
Cataract, Short neck, Microphthalmia, Iris coloboma, Retinoblastoma |
ORPHA:1587 |
| Ohdo Syndrome, X-Linked |
|
Cryptorchidism, Scoliosis, Decreased body weight, Microphthalmia, Joint hypermobility |
OMIM:300895 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
| Townes-Brocks Syndrome |
|
Failure to thrive, Cataract, Abnormal pulmonary valve morphology, Limbal dermoid, Cryptorchidism,... |
ORPHA:857 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Abnormal ductus choledochus morphology, Granuloma, Increased cir... |
ORPHA:562639 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Optic neuropathy, Increased intervertebral space, Phthisis bulbi, Opti... |
OMIM:619727 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Short nos... |
ORPHA:177907 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Optic atrophy, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Ro... |
OMIM:601539 |
| Wolfram Syndrome |
|
Joint stiffness, Abnormal mesentery morphology, Optic atrophy, Cardiomyopathy, Abnormal autonomic... |
ORPHA:3463 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Orchitis, Thrombocytopenia, Leukocytosis, Epididymitis, Splenomegaly,... |
ORPHA:99827 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Ramon Syndrome |
|
Optic disc pallor, Kyphosis, Pigmentary retinopathy, Axenfeld anomaly, Scoliosis, Decreased body ... |
OMIM:266270 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Retinal dystrophy, Supernumerary... |
ORPHA:397715 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Iri... |
ORPHA:261552 |
| Hereditary Acrokeratotic Poikiloderma |
|
Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opacification of the corneal st... |
ORPHA:2907 |
| Rift Valley Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia |
ORPHA:319251 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Cataract, Adrenal gland agenesis |
OMIM:273395 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Cryptorchidism, Reduced bone mineral density, Developmental cataract, Abdomi... |
ORPHA:2108 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Scoliosis, Microphthalmia, Cyclo... |
OMIM:157170 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Frontal u... |
OMIM:176270 |
| Curry-Jones Syndrome |
|
Unicoronal synostosis, Wormian bones, Microphthalmia, Iris coloboma, Bicoronal synostosis |
OMIM:601707 |
| Mowat-Wilson Syndrome |
|
Cataract, Aganglionic megacolon, Ventricular septal defect, Supernumerary nipple, Cryptorchidism,... |
OMIM:235730 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, De... |
ORPHA:438213 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Asplenia, Flexion contracture, Iris coloboma, Cryptorchidism, Delayed skel... |
ORPHA:261537 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microphthalmia, Cryptorchidism |
ORPHA:2728 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congeni... |
ORPHA:3455 |
| Aspartylglucosaminuria |
|
Joint laxity, Hepatomegaly, Cataract, Kyphosis, Delayed skeletal maturation, Vacuolated lymphocyt... |
OMIM:208400 |
| 8Q24.3 Microdeletion Syndrome |
|
Joint laxity, Ectopic posterior pituitary, Thoracic scoliosis, Ventricular septal defect, Optic n... |
ORPHA:508488 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Chondrocalcinosis, Pancreat... |
ORPHA:405 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Ankylosis, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Short neck, Cryptorchidism, Delayed skeletal maturation, Hip dislocation, Antec... |
OMIM:609945 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
| Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Ventricular septal defect, Short neck, Cryptorchidism, Hip dislocation, Cervical C... |
OMIM:613458 |
| Mucopolysaccharidosis Type 6 |
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Splenomegaly, Opacification of the corneal stroma |
ORPHA:583 |
| Hyperoxaluria, Primary, Type I |
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Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Re... |
OMIM:259900 |
| Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Meckel Syndrome, Type 5 |
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Microphthalmia, Bile duct proliferation |
OMIM:611561 |
| Dermatomyositis |
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Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Arthritis, Chondrocalcinosis |
ORPHA:221 |
| Meckel Syndrome 14 |
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Short neck, Decreased calvarial ossification, Hepatic fibrosis, Microphthalmia, Single ventricle |
OMIM:619879 |
| Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Cataract, Ventricular septal defect, Corneal opacity, Ankle flexion contracture... |
OMIM:268300 |
| Hutchinson-Gilford Progeria Syndrome |
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Absent eyebrow, Corneal opacity, Alopecia totalis, Hypermelanotic macule, Nocturnal lagophthalmos... |
ORPHA:740 |
| Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Asplenia, Flexion contracture, Iris coloboma, Cryptorchidism, Delayed skel... |
ORPHA:2152 |
| Stuve-Wiedemann Syndrome 1 |
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Blotching pigmentation of the skin, Opacification of the corneal stroma, Sparse hair, Short nose,... |
OMIM:601559 |
| Meckel Syndrome, Type 2 |
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Microphthalmia, Bile duct proliferation |
OMIM:603194 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Abnormality iris morphology, Scoliosis, Cardiomegaly |
ORPHA:91387 |
| Baller-Gerold Syndrome |
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Bicoronal synostosis, Optic nerve hypoplasia, Anomalous splenoportal venous system, Limited elbow... |
OMIM:218600 |
| Deafness, X-Linked 7 |
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Unilateral microphthalmos |
OMIM:301018 |
| Fontaine Progeroid Syndrome |
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Atrial septal defect, Absent nipple, Bicuspid aortic valve, Small for gestational age, Craniosyno... |
OMIM:612289 |
| Dyggve-Melchior-Clausen Disease |
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Corneal opacity |
ORPHA:239 |
| Sim1-Related Prader-Willi-Like Syndrome |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
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Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... |
OMIM:607944 |
| Peters Plus Syndrome |
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Cataract, Corneal opacity, Upslanted palpebral fissure, Microcornea, Peters anomaly, Short nose, ... |
ORPHA:709 |
| Fraser Syndrome 2 |
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Microphthalmia, Hypoplasia of the thymus, Short neck |
OMIM:617666 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal glands, Thyr... |
ORPHA:79078 |
| Frontonasal Dysplasia 2 |
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Bilateral cryptorchidism, Microphthalmia, Craniosynostosis |
OMIM:613451 |
| Microcephaly-Micromelia Syndrome |
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Microphthalmia, Humeroradial synostosis, Craniosynostosis, Short neck |
OMIM:251230 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98754 |
| Teebi-Shaltout Syndrome |
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Ventricular septal defect, Camptodactyly, Microphthalmia, Aortic valve stenosis, Caudal appendage |
OMIM:272950 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98793 |
| Van Den Ende-Gupta Syndrome |
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Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea |
OMIM:600920 |
| Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177904 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Cryptorchidism, Abnormal cardiac septum morphology, Microphthalmia, Cyclopia, Thyroid hypoplasia |
ORPHA:2166 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177901 |
| Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Microphthalmia, Tetralogy of Fallot, Camptodactyly of finger, Cataract |
ORPHA:306542 |
| Neu-Laxova Syndrome 1 |
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Cataract, Ventricular septal defect, Short neck, Cryptorchidism, Transposition of the great arter... |
OMIM:256520 |
| Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
| Digeorge Syndrome |
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Sclerocornea, Thrombocytopenia, Splenomegaly, Anemia, Abnormal thymus morphology, Hypoplasia of t... |
OMIM:188400 |
| Magel2-Related Prader-Willi-Like Syndrome |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
| Frontofacionasal Dysplasia |
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Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
| Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, Cataract, Coloboma, Cryptorchidism |
OMIM:603457 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Absent gallbladder, Short neck, Complete atrioventricular canal defect, Decreased calvarial ossif... |
OMIM:617925 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Keratiti... |
OMIM:308205 |
| Limb Body Wall Complex |
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Corneal opacity, Wide nasal bridge, Abnormality of the liver, Lens subluxation, Iris coloboma |
ORPHA:2369 |
| Pmm2-Cdg |
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Osteopenia, Multiple joint contractures, Hypoalbuminemia, Hepatic fibrosis, Aplasia of the ovary,... |
ORPHA:79318 |
| Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microcornea, Microphthalmia, Short neck, Cryptorchidism |
OMIM:616734 |
| Congenital Tracheomalacia |
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Failure to thrive, Ventricular septal defect, Tracheomalacia, Cardiomegaly, Partial anomalous pul... |
ORPHA:95430 |
| Witteveen-Kolk Syndrome |
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Joint laxity, Cataract, Small for gestational age, Decreased response to growth hormone stimulati... |
OMIM:613406 |
| Autosomal Dominant Cutis Laxa |
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Developmental cataract, Corneal opacity, Ptosis |
ORPHA:90348 |
| Monosomy 9P |
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Short neck, Cryptorchidism, Limitation of joint mobility, Abnormality of the vertebral column, Sc... |
ORPHA:261112 |
| Prader-Willi Syndrome |
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Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Flat acetabular roof, Microphthalmia, Unicoronal synostosis, Cryptorchidism |
OMIM:616300 |
| Mucopolysaccharidosis, Type Iva |
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Hepatomegaly, Opacification of the corneal stroma |
OMIM:253000 |
| Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Pallister-Hall Syndrome |
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Thyroid hypoplasia, Hypopituitarism, Ventricular septal defect, Large for gestational age, Crypto... |
ORPHA:672 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Opacification of the corneal stroma |
OMIM:313400 |
| Double Outlet Left Ventricle |
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Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
| Lethal Acantholytic Erosive Disorder |
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Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic left heart, P... |
OMIM:100300 |
| Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Adrenal glan... |
OMIM:236680 |
| Osteogenesis Imperfecta |
|
Corneal opacity, Thrombocytopenia |
ORPHA:666 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism |
ORPHA:96191 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, H... |
OMIM:182250 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair, Prolonged neonatal jaundice |
ORPHA:565 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Prominent metopic ridge, Cardiomegaly, Accelerated skeletal maturation, Cryptorchid... |
OMIM:130650 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Epicanthus, Cataract, Sparse eyelashes, Absent nipple, Sclerocornea, Sparse ey... |
OMIM:216340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
| Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph... |
OMIM:154500 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Holoprosencephaly 1 |
|
Microphthalmia, Cyclopia, Single ventricle |
OMIM:236100 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
