| Li-Fraumeni Syndrome 2 |
|
|
OMIM:609265 |
| Reticulum Cell Sarcoma |
|
|
OMIM:267730 |
| Myofibromatosis, Infantile, 1 |
|
|
OMIM:228550 |
| Muir-Torre Syndrome |
|
|
OMIM:158320 |
| Ewing Sarcoma |
|
|
OMIM:612219 |
| Cerebral Sarcoma |
|
|
OMIM:117600 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
|
ORPHA:454840 |
| Melanoma-Pancreatic Cancer Syndrome |
|
|
OMIM:606719 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
|
ORPHA:247806 |
| Hemifacial Hyperplasia |
|
|
OMIM:133900 |
| Mismatch Repair Cancer Syndrome 1 |
|
|
OMIM:276300 |
| Hereditary Mixed Polyposis Syndrome |
|
|
ORPHA:157794 |
| Desmoid Disease, Hereditary |
|
|
OMIM:135290 |
| Multiple Fibroadenomas Of The Breast |
|
|
OMIM:615554 |
| Sarcoma, Synovial |
|
|
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
|
OMIM:606243 |
| Familial Adenomatous Polyposis 1 |
|
|
OMIM:175100 |
| Mast Cell Sarcoma |
|
|
ORPHA:66661 |
| Familial Adenomatous Polyposis |
|
|
ORPHA:733 |
| Chondrosarcoma |
|
|
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
|
OMIM:612237 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
|
OMIM:613325 |
| Undifferentiated Pleomorphic Sarcoma |
|
|
ORPHA:2023 |
| Colorectal Cancer, Susceptibility To, 12 |
|
|
OMIM:615083 |
| Li-Fraumeni Syndrome |
|
|
OMIM:151623 |
| Nut Midline Carcinoma |
|
|
ORPHA:443167 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
|
OMIM:600257 |
| Hydrocephalus, Congenital, 1 |
|
|
OMIM:236600 |
| Erythroleukemia, Familial, Susceptibility To |
|
|
OMIM:133180 |
| Paraneoplastic Pemphigus |
|
|
ORPHA:63455 |
| Juvenile Polyposis Syndrome |
|
|
OMIM:174900 |
| Attenuated Familial Adenomatous Polyposis |
|
|
ORPHA:220460 |
| Acquired Ichthyosis |
|
|
ORPHA:454 |
| Hydrocephalus With Cerebellar Agenesis |
|
|
OMIM:307010 |
| Dermatofibrosarcoma Protuberans |
|
|
ORPHA:31112 |
| Mantle Cell Lymphoma |
|
|
ORPHA:52416 |
| Ollier Disease |
|
|
ORPHA:296 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
|
ORPHA:447877 |
| Megalencephaly, Autosomal Dominant |
|
|
OMIM:155350 |
| Maffucci Syndrome |
|
|
ORPHA:163634 |
| Lichen Sclerosus Et Atrophicus |
|
|
OMIM:151590 |
| Sacral Agenesis With Vertebral Anomalies |
|
|
OMIM:615709 |
| Desmoplastic Small Round Cell Tumor |
|
|
ORPHA:83469 |
| Enchondromatosis, Multiple, Ollier Type |
|
|
OMIM:166000 |
| Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
|
ORPHA:247798 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
|
OMIM:615938 |
| Craniofacial Conodysplasia |
|
|
ORPHA:85168 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
|
OMIM:236660 |
| Keratosis, Familial Actinic |
|
|
OMIM:148390 |
| Immunodeficiency 16 |
|
|
OMIM:615593 |
| Progressive Osseous Heteroplasia |
|
|
ORPHA:2762 |
| Neuroendocrine Neoplasm Of Appendix |
|
|
ORPHA:100079 |
| Alexander Disease |
|
|
OMIM:203450 |
| Gastrointestinal Stromal Tumor |
|
|
ORPHA:44890 |
| Multiple Enchondromatosis, Maffucci Type |
|
|
OMIM:614569 |
| Hypereosinophilic Syndrome, Idiopathic |
|
|
OMIM:607685 |
| Fetal Cytomegalovirus Syndrome |
|
|
ORPHA:294 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
|
OMIM:618709 |
| Rhabdoid Tumor |
|
|
ORPHA:69077 |
| Infantile Myofibromatosis |
|
|
ORPHA:2591 |
| Papilloma Of Choroid Plexus |
|
|
ORPHA:2807 |
| Neural Tube Defects, Susceptibility To |
|
|
OMIM:182940 |
| Liposarcoma |
|
|
ORPHA:69078 |
| Large Congenital Melanocytic Nevus |
|
|
ORPHA:626 |
| Hydrocephalus, Autosomal Dominant |
|
|
OMIM:123155 |
| Tyrosinemia Type 1 |
|
|
ORPHA:882 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
|
ORPHA:2274 |
| B4Galt1-Cdg |
|
|
ORPHA:79332 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
|
ORPHA:86893 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
|
OMIM:614470 |
| Gardner Syndrome |
|
|
ORPHA:79665 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
|
OMIM:615937 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
|
OMIM:603641 |
| Pineocytoma |
|
|
ORPHA:251912 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
|
ORPHA:231401 |
| Hypomandibular Faciocranial Dysostosis |
|
|
OMIM:241310 |
| Craniofacial-Deafness-Hand Syndrome |
|
|
OMIM:122880 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
|
OMIM:611808 |
| Spondylospinal Thoracic Dysostosis |
|
|
OMIM:601809 |
| Beemer Lethal Malformation Syndrome |
|
|
OMIM:209970 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
|
ORPHA:1538 |
| Li-Fraumeni Syndrome |
|
|
ORPHA:524 |
| Colorectal Cancer, Susceptibility To, 10 |
|
|
OMIM:612591 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
|
ORPHA:2972 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
|
OMIM:617967 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
|
OMIM:264270 |
| Progressive Familial Intrahepatic Cholestasis |
|
|
ORPHA:172 |
| Yellow Nail Syndrome |
|
|
ORPHA:662 |
| Gray Platelet Syndrome |
|
|
ORPHA:721 |
| Masa Syndrome |
|
|
OMIM:303350 |
| Exostoses, Multiple, Type Ii |
|
|
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
|
OMIM:133700 |
| Alpha-Heavy Chain Disease |
|
|
ORPHA:100025 |
| Hodgkin Lymphoma |
|
|
ORPHA:98293 |
| Desmoid Tumor |
|
|
ORPHA:873 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
|
OMIM:166990 |
| Alpha-Thalassemia |
|
|
ORPHA:846 |
| Immunodeficiency 76 |
|
|
OMIM:619164 |
| Apolipoprotein A-I Deficiency |
|
|
ORPHA:425 |
| Band Heterotopia |
|
|
OMIM:600348 |
| Chudley-Mccullough Syndrome |
|
|
OMIM:604213 |
| Atypical Teratoid Rhabdoid Tumor |
|
|
ORPHA:99966 |
| Glycoprotein Storage Disease |
|
|
OMIM:232900 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
|
OMIM:273050 |
| Fanconi Anemia, Complementation Group R |
|
|
OMIM:617244 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
|
ORPHA:46532 |
| Dandy-Walker Syndrome |
|
|
OMIM:220200 |
| Mastocytosis |
|
|
ORPHA:98292 |
| Adenocarcinoma Of The Anal Canal |
|
|
ORPHA:424016 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
|
OMIM:300853 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
|
OMIM:618495 |
| Ataxia-Pancytopenia Syndrome |
|
|
ORPHA:2585 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
|
OMIM:608432 |
| Chronic Myeloid Leukemia |
|
|
ORPHA:521 |
| Ovarian Fibrothecoma |
|
|
ORPHA:314478 |
| Acquired Idiopathic Sideroblastic Anemia |
|
|
ORPHA:75564 |
| Hemoglobin H Disease |
|
|
OMIM:613978 |
| Follicular Lymphoma |
|
|
ORPHA:545 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
|
ORPHA:79303 |
| Acromesomelic Dysplasia, Grebe Type |
|
|
ORPHA:2098 |
| Edinburgh Malformation Syndrome |
|
|
OMIM:129850 |
| Retinoblastoma |
|
|
OMIM:180200 |
| Squamous Cell Carcinoma, Head And Neck |
|
|
OMIM:275355 |
| Achondroplasia |
|
|
OMIM:100800 |
| Fried Syndrome |
|
|
ORPHA:85335 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
|
ORPHA:79302 |
| Hyperlipoproteinemia, Type Id |
|
|
OMIM:615947 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
|
OMIM:206400 |
| Myelofibrosis |
|
|
OMIM:254450 |
| Kleeblattschaedel |
|
|
OMIM:148800 |
| Metatropic Dysplasia |
|
|
ORPHA:2635 |
| Developmental And Epileptic Encephalopathy 36 |
|
|
OMIM:300884 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
|
ORPHA:2776 |
| Immunodeficiency 48 |
|
|
OMIM:269840 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
|
ORPHA:1008 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
|
OMIM:608971 |
| Lymphoproliferative Syndrome 2 |
|
|
OMIM:615122 |
| Classic Mycosis Fungoides |
|
|
ORPHA:2584 |
| Biemond Syndrome Ii |
|
|
OMIM:210350 |
| Lung Cancer |
|
|
OMIM:211980 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
|
OMIM:183802 |
| Cheilitis Glandularis |
|
|
OMIM:118330 |
| Werner Syndrome |
|
|
ORPHA:902 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
|
OMIM:619375 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
|
OMIM:614830 |
| Pettigrew Syndrome |
|
|
OMIM:304340 |
| Hypertriglyceridemia, Transient Infantile |
|
|
OMIM:614480 |
| Immunodeficiency 36 |
|
|
OMIM:616005 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
|
OMIM:619175 |
| Primary Sclerosing Cholangitis |
|
|
ORPHA:171 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
|
OMIM:619220 |
| Immunodeficiency, Common Variable, 2 |
|
|
OMIM:240500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
|
OMIM:613154 |
| Cronkhite-Canada Syndrome |
|
|
ORPHA:2930 |
| Sea-Blue Histiocyte Disease |
|
|
OMIM:269600 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
|
ORPHA:79301 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
|
ORPHA:444463 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
|
OMIM:615559 |
| Cleft Velum |
|
|
ORPHA:99772 |
| Immunodeficiency 64 |
|
|
OMIM:618534 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
|
ORPHA:2703 |
| Essential Thrombocythemia |
|
|
ORPHA:3318 |
| Developmental And Epileptic Encephalopathy 49 |
|
|
OMIM:617281 |
| Papilloma Of Choroid Plexus |
|
|
OMIM:260500 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
|
OMIM:183350 |
| Schnitzler Syndrome |
|
|
ORPHA:37748 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
|
OMIM:300676 |
| Dental Anomalies And Short Stature |
|
|
OMIM:601216 |
| Gastrointestinal Stromal Tumor |
|
|
OMIM:606764 |
| Holoprosencephaly 5 |
|
|
OMIM:609637 |
| Tuberous Sclerosis 2 |
|
|
OMIM:613254 |
| Hyperbilirubinemia, Shunt, Primary |
|
|
OMIM:237800 |
| Classic Hodgkin Lymphoma |
|
|
ORPHA:391 |
| Vacterl Association With Hydrocephalus |
|
|
OMIM:276950 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
|
OMIM:606445 |
| Split-Hand/Foot Malformation 3 |
|
|
OMIM:246560 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
|
ORPHA:93950 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
|
OMIM:617866 |
| Osteolysis Syndrome, Recessive |
|
|
OMIM:259610 |
| Cholestasis-Lymphedema Syndrome |
|
|
ORPHA:1414 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
|
OMIM:118830 |
| Terminal Osseous Dysplasia |
|
|
OMIM:300244 |
| Encephalopathy Due To Prosaposin Deficiency |
|
|
ORPHA:139406 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
|
ORPHA:3226 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
|
OMIM:615285 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
|
OMIM:258320 |
| Pleuropulmonary Blastoma |
|
|
OMIM:601200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
|
OMIM:300886 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
|
OMIM:308240 |
| Acute Panmyelosis With Myelofibrosis |
|
|
ORPHA:86843 |
| Methylmalonic Acidemia With Homocystinuria |
|
|
ORPHA:26 |
| Hydrocephalus, Congenital Communicating, 1 |
|
|
OMIM:618667 |
| Acalvaria |
|
|
ORPHA:945 |
| Gist-Plus Syndrome |
|
|
OMIM:175510 |
| Immunodeficiency 47 |
|
|
OMIM:300972 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
|
OMIM:618541 |
| Milroy Disease |
|
|
ORPHA:79452 |
| X-Linked Intellectual Disability, Porteous Type |
|
|
ORPHA:93945 |
| Retinoblastoma |
|
|
ORPHA:790 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
|
ORPHA:457059 |
| Hydrolethalus Syndrome 2 |
|
|
OMIM:614120 |
| Monosomy 22 |
|
|
ORPHA:96123 |
| Craniofacial Dyssynostosis |
|
|
ORPHA:1516 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
|
ORPHA:90033 |
| Cholestasis-Lymphedema Syndrome |
|
|
OMIM:214900 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
|
OMIM:601847 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
|
OMIM:166300 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
|
OMIM:618852 |
| Proteus Syndrome |
|
|
OMIM:176920 |
| Lymphoproliferative Syndrome 1 |
|
|
OMIM:613011 |
| Gómez-López-Hernández Syndrome |
|
|
ORPHA:1532 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
|
ORPHA:231393 |
| Immunodeficiency 54 |
|
|
OMIM:609981 |
| Cole-Carpenter Syndrome 1 |
|
|
OMIM:112240 |
| Congenital Hydrocephalus |
|
|
ORPHA:2185 |
| 1Q21.1 Microduplication Syndrome |
|
|
ORPHA:250994 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
|
ORPHA:98849 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
|
ORPHA:2181 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
|
OMIM:613673 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
|
OMIM:156510 |
| Combined Saposin Deficiency |
|
|
OMIM:611721 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
|
ORPHA:324416 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
|
OMIM:603552 |
| Gamma-Heavy Chain Disease |
|
|
ORPHA:100026 |
| Galactose Epimerase Deficiency |
|
|
ORPHA:79238 |
| Red Cell Phospholipid Defect With Hemolysis |
|
|
OMIM:179700 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
|
OMIM:615234 |
| Primary Myelofibrosis |
|
|
ORPHA:824 |
| Carney Triad |
|
|
ORPHA:139411 |
| Galactosemia Iii |
|
|
OMIM:230350 |
| Sandhoff Disease |
|
|
ORPHA:796 |
| Meige Disease |
|
|
ORPHA:90186 |
| Portal Hypertension, Noncirrhotic, 1 |
|
|
OMIM:617068 |
| Frontal Encephalocele |
|
|
ORPHA:1931 |
| Cleft Lip/Palate |
|
|
ORPHA:199306 |
| Paragangliomas 4 |
|
|
OMIM:115310 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
|
OMIM:112250 |
| Multiple Endocrine Neoplasia, Type Iv |
|
|
OMIM:610755 |
| Splenoportal Vascular Anomalies |
|
|
OMIM:271500 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
|
ORPHA:2183 |
| Neonatal Severe Primary Hyperparathyroidism |
|
|
ORPHA:417 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
|
OMIM:613101 |
| Gorlin Syndrome |
|
|
ORPHA:377 |
| Sézary Syndrome |
|
|
ORPHA:3162 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
|
ORPHA:397973 |
| Papillary Tumor Of The Pineal Region |
|
|
ORPHA:251915 |
| Immunodeficiency 69 |
|
|
OMIM:618963 |
| 6P22 Microdeletion Syndrome |
|
|
ORPHA:251046 |
| Niemann-Pick Disease, Type B |
|
|
OMIM:607616 |
| Maxillonasal Dysplasia |
|
|
ORPHA:1248 |
| Trimethylaminuria |
|
|
OMIM:602079 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
|
ORPHA:228312 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
|
ORPHA:2180 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
|
OMIM:600991 |
| Hemochromatosis, Type 2B |
|
|
OMIM:613313 |
| Carney-Stratakis Syndrome |
|
|
ORPHA:97286 |
| Turcot Syndrome With Polyposis |
|
|
ORPHA:99818 |
| Mu-Heavy Chain Disease |
|
|
ORPHA:100024 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
|
OMIM:616719 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
|
OMIM:616828 |
| Cholesteryl Ester Storage Disease |
|
|
ORPHA:75234 |
| Thanatophoric Dysplasia |
|
|
ORPHA:2655 |
| Autoimmune Hemolytic Anemia |
|
|
ORPHA:98375 |
| Blackfan-Diamond Anemia |
|
|
ORPHA:124 |
| Thanatophoric Dysplasia Type 2 |
|
|
ORPHA:93274 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
|
OMIM:616860 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
|
ORPHA:231242 |
| Multiple Endocrine Neoplasia Type 4 |
|
|
ORPHA:276152 |
| Temple Syndrome |
|
|
OMIM:616222 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
|
OMIM:615631 |
| Spastic Paraplegia 16, X-Linked |
|
|
OMIM:300266 |
| Gaucher Disease Type 2 |
|
|
ORPHA:77260 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
|
ORPHA:352682 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
|
ORPHA:93262 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
|
OMIM:300635 |
| Neurofibromatosis Type 1 |
|
|
ORPHA:636 |
| Biemond Syndrome Type 2 |
|
|
ORPHA:141333 |
| 20P12.3 Microdeletion Syndrome |
|
|
ORPHA:261295 |
| Aicardi-Goutieres Syndrome 4 |
|
|
OMIM:610333 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
|
OMIM:618577 |
| Melanosis, Neurocutaneous |
|
|
OMIM:249400 |
| Diencephalic Syndrome |
|
|
ORPHA:1672 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
|
OMIM:224100 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
|
OMIM:300864 |
| Cowden Syndrome |
|
|
ORPHA:201 |
| Lysosomal Acid Lipase Deficiency |
|
|
OMIM:278000 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
|
OMIM:304100 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
|
OMIM:616278 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
|
OMIM:602347 |
| Rhabdomyosarcoma 2 |
|
|
OMIM:268220 |
| Vitamin K Antagonist Embryofetopathy |
|
|
ORPHA:1914 |
| Pfapa Syndrome |
|
|
ORPHA:42642 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
|
OMIM:170390 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
|
OMIM:618737 |
| Budd-Chiari Syndrome |
|
|
ORPHA:131 |
| Common Variable Immunodeficiency |
|
|
ORPHA:1572 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
|
OMIM:314390 |
| Coproporphyria, Hereditary |
|
|
OMIM:121300 |
| Ghosal Hematodiaphyseal Dysplasia |
|
|
ORPHA:1802 |
| Craniotelencephalic Dysplasia |
|
|
ORPHA:1528 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
|
OMIM:225790 |
| Mend Syndrome |
|
|
OMIM:300960 |
| Chromosome 17P13.1 Deletion Syndrome |
|
|
OMIM:613776 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
|
ORPHA:1018 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
|
OMIM:615225 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
|
OMIM:608540 |
| Pontocerebellar Hypoplasia, Type 15 |
|
|
OMIM:619302 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
|
OMIM:617542 |
| Mandibulofacial Dysostosis With Alopecia |
|
|
OMIM:616367 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
|
OMIM:224120 |
| Immunodeficiency 52 |
|
|
OMIM:617514 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
|
OMIM:612247 |
| Ornithine Transcarbamylase Deficiency |
|
|
ORPHA:664 |
| Hemochromatosis, Type 1 |
|
|
OMIM:235200 |
| Distal 7Q11.23 Microduplication Syndrome |
|
|
ORPHA:261102 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
|
OMIM:211600 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
|
ORPHA:766 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
|
ORPHA:99947 |
| Mental Retardation, Buenos Aires Type |
|
|
OMIM:249630 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
|
ORPHA:2182 |
| Craniofacial-Deafness-Hand Syndrome |
|
|
ORPHA:1529 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
|
OMIM:618476 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
|
OMIM:610293 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
|
ORPHA:2975 |
| Jackson-Weiss Syndrome |
|
|
ORPHA:1540 |
| Amyloidosis, Familial Visceral |
|
|
OMIM:105200 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
|
OMIM:613812 |
| X-Linked Sideroblastic Anemia |
|
|
ORPHA:75563 |
| Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation |
|
|
ORPHA:85279 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
|
OMIM:602501 |
| Radial Aplasia, X-Linked |
|
|
OMIM:312190 |
| Craniosynostosis And Dental Anomalies |
|
|
OMIM:614188 |
| Temple Syndrome |
|
|
ORPHA:254516 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
|
OMIM:109120 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
|
OMIM:612940 |
| Familial Thrombocytosis |
|
|
ORPHA:71493 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
|
OMIM:613153 |
| Mucopolysaccharidosis, Type Vii |
|
|
OMIM:253220 |
| Immunodeficiency 14A, Autosomal Dominant |
|
|
OMIM:615513 |
| Dysplastic Cortical Hyperostosis |
|
|
ORPHA:2204 |
| Premature Aging Syndrome, Penttinen Type |
|
|
OMIM:601812 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
|
ORPHA:2701 |
| Immunodeficiency 27A |
|
|
OMIM:209950 |
| Autoimmune Lymphoproliferative Syndrome |
|
|
OMIM:601859 |
| Beta-Thalassemia Intermedia |
|
|
ORPHA:231222 |
| Autoimmune Lymphoproliferative Syndrome |
|
|
ORPHA:3261 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
|
OMIM:612526 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
|
ORPHA:2412 |
| Sclerosing Cholangitis, Neonatal |
|
|
OMIM:617394 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
|
OMIM:220220 |
| Stickler Syndrome Type 1 |
|
|
ORPHA:90653 |
| Congenital Toxoplasmosis |
|
|
ORPHA:858 |
| Bresek Syndrome |
|
|
ORPHA:85284 |
| Wolman Disease |
|
|
ORPHA:75233 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
|
ORPHA:77298 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
|
ORPHA:169090 |
| Lissencephaly 5 |
|
|
OMIM:615191 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
|
OMIM:616482 |
| Lcat Deficiency |
|
|
ORPHA:650 |
| Omenn Syndrome |
|
|
ORPHA:39041 |
| Melanocytic Nevus Syndrome, Congenital |
|
|
OMIM:137550 |
| Lujan-Fryns Syndrome |
|
|
ORPHA:776 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
|
OMIM:608154 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
|
OMIM:612840 |
| Autoimmune Hepatitis |
|
|
ORPHA:2137 |
| Central Neurocytoma |
|
|
ORPHA:73256 |
| Infantile Sialic Acid Storage Disease |
|
|
OMIM:269920 |
| Indolent Systemic Mastocytosis |
|
|
ORPHA:98848 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
|
OMIM:608799 |
| Acrocephalopolysyndactyly Type Iii |
|
|
OMIM:101120 |
| Babesiosis |
|
|
ORPHA:108 |
| Pycnodysostosis |
|
|
ORPHA:763 |
| Frontonasal Dysplasia 1 |
|
|
OMIM:136760 |
| Central Precocious Puberty |
|
|
ORPHA:759 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
|
OMIM:307000 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
|
ORPHA:163961 |
| Gaucher Disease, Type I |
|
|
OMIM:230800 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
|
OMIM:607765 |
| Lymphedema-Distichiasis Syndrome |
|
|
ORPHA:33001 |
| Polycythemia Vera |
|
|
ORPHA:729 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
|
OMIM:616689 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
|
OMIM:300863 |
| Hydrocephalus, Normal-Pressure, 1 |
|
|
OMIM:236690 |
| Caroli Disease |
|
|
ORPHA:53035 |
| Krabbe Disease |
|
|
OMIM:245200 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
|
ORPHA:83473 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
|
ORPHA:397951 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
|
OMIM:615287 |
| Hydrocephalus With Associated Malformations |
|
|
OMIM:236640 |
| Immunodeficiency, Common Variable, 1 |
|
|
OMIM:607594 |
| Greig Cephalopolysyndactyly Syndrome |
|
|
ORPHA:380 |
| Diabetic Embryopathy |
|
|
ORPHA:1926 |
| Osteopetrosis, Autosomal Recessive 8 |
|
|
OMIM:615085 |
| Osteopetrosis, Autosomal Recessive 4 |
|
|
OMIM:611490 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
|
OMIM:235555 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
|
OMIM:613489 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
|
OMIM:614195 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
|
OMIM:602200 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
|
OMIM:616452 |
| Hemochromatosis, Type 2A |
|
|
OMIM:602390 |
| Spondylometaphyseal Dysplasia, Axial |
|
|
OMIM:602271 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
|
ORPHA:272 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
|
ORPHA:99880 |
| Ritscher-Schinzel Syndrome 1 |
|
|
OMIM:220210 |
| Thanatophoric Dysplasia, Type I |
|
|
OMIM:187600 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
|
OMIM:618935 |
| Gaucher Disease, Type Ii |
|
|
OMIM:230900 |
| Mental Retardation, Autosomal Dominant 35 |
|
|
OMIM:616355 |
| Atelosteogenesis, Type Iii |
|
|
OMIM:108721 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
|
ORPHA:228396 |
| Nephronophthisis 19 |
|
|
OMIM:616217 |
| Felty Syndrome |
|
|
ORPHA:47612 |
| L1 Syndrome |
|
|
ORPHA:275543 |
| Griscelli Syndrome |
|
|
ORPHA:381 |
| Polycythemia Vera |
|
|
OMIM:263300 |
| Farber Lipogranulomatosis |
|
|
OMIM:228000 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
|
OMIM:603387 |
| Crouzon Disease |
|
|
ORPHA:207 |
| Muscle-Eye-Brain Disease |
|
|
ORPHA:588 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
|
OMIM:257850 |
| Parathyroid Carcinoma |
|
|
ORPHA:143 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
|
OMIM:603909 |
| Gaucher Disease, Type Iii |
|
|
OMIM:231000 |
| Leishmaniasis |
|
|
ORPHA:507 |
| Axial Mesodermal Dysplasia Spectrum |
|
|
ORPHA:1834 |
| Zimmermann-Laband Syndrome |
|
|
ORPHA:3473 |
| Greig Cephalopolysyndactyly Syndrome |
|
|
OMIM:175700 |
| Osteogenic Sarcoma |
|
|
OMIM:259500 |
| Erythrocytosis, Familial, 8 |
|
|
OMIM:222800 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
|
ORPHA:79113 |
| Nasu-Hakola Disease |
|
|
ORPHA:2770 |
| 3C Syndrome |
|
|
ORPHA:7 |
| Beta-Thalassemia |
|
|
ORPHA:848 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
|
OMIM:218000 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
|
OMIM:614700 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
|
OMIM:600559 |
| Aredyld Syndrome |
|
|
ORPHA:1133 |
| Aarskog-Scott Syndrome |
|
|
ORPHA:915 |
| Sea-Blue Histiocytosis |
|
|
ORPHA:158029 |
| Keipert Syndrome |
|
|
ORPHA:2662 |
| Thrombocythemia 1 |
|
