Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty |
OMIM:615961 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... |
ORPHA:438274 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Rhizomelic Syndrome |
|
Wide anterior fontanel, Short stature, Rhizomelia, Bifid distal phalanx of the thumb, Complete du... |
OMIM:268250 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... |
OMIM:133180 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi... |
ORPHA:79084 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Short stature, Flared m... |
OMIM:601561 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... |
ORPHA:3268 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ... |
OMIM:614470 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Wide anterior fontanel, Tibial bowing, Recurrent fractures, Disproportionate short-limb... |
OMIM:259420 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Short stature, Short neck, Abno... |
ORPHA:3098 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance |
OMIM:311100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... |
OMIM:609052 |
Sponastrime Dysplasia |
|
Depressed nasal bridge, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the nasal bone, ... |
ORPHA:93357 |
Immunodeficiency 76 |
|
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, L... |
OMIM:619164 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Short stature, Scoliosis, Genu varum, Pectus carinatum, Shor... |
OMIM:184255 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... |
OMIM:618150 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Narrow chest, Wide anterior fontanel, Abnormal femoral neck/head morphology, Abnormal bone ossifi... |
ORPHA:163649 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate sh... |
OMIM:156530 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral bowing, Barrel-shaped chest, Platyspondyly, Osteopenia, Decreased calvarial ossification,... |
OMIM:610915 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Bone marrow hypocellularity, Refractory anemia... |
OMIM:616871 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short lo... |
OMIM:228520 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Short stature, Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnorma... |
ORPHA:163665 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Macrocytic anemia, Erythroid hypoplasi... |
ORPHA:86841 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shaped epiphysis, Hy... |
ORPHA:280651 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... |
ORPHA:1801 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
Achondroplasia |
|
Rhizomelia, Short long bone, Thoracic hypoplasia, Spinal canal stenosis, Narrow greater sciatic n... |
ORPHA:15 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
Immunodeficiency 24 |
|
Lymphopenia, Lymphoproliferative disorder, Reduced proportion of mucosal-associated invariant T c... |
OMIM:615897 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian b... |
ORPHA:85184 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... |
ORPHA:2635 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
OMIM:608154 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Anauxetic Dysplasia 3 |
|
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Pectus excavatum, Metaphyseal ... |
OMIM:618853 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Lymphedema, Primary, With Myelodysplasia |
|
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... |
ORPHA:181393 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Myelodysplasia, Neutropenia, Bone marrow hypocel... |
OMIM:619041 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia |
ORPHA:169079 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Cachexia, Hep... |
ORPHA:824 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Malar flattening, Prominence of the premaxilla, Depressed nas... |
ORPHA:2412 |
Craniometadiaphyseal Dysplasia |
|
Wide anterior fontanel, Sclerosis of skull base, Short stature, Osteopenia, Flared metaphysis, Sc... |
OMIM:269300 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Severe short-limb dwarfism, Wide anterior fontanel, Hypoplastic vertebral bodies, T... |
ORPHA:2347 |
Preaxial Hallucal Polydactyly |
|
Diabetes mellitus |
OMIM:601759 |
Immunodeficiency 105 |
|
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence o... |
OMIM:619924 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ... |
OMIM:618728 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, Failure to thrive... |
OMIM:618987 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Amed Syndrome, Digenic |
|
Failure to thrive, Short stature, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia... |
OMIM:619151 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Recurrent fractures, Pectus excavatum, Disproportionate short-limb short stature, Decre... |
OMIM:259440 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Narrow chest, Hip contracture, Lumbar hyperlordosis, Congenital foot contractures, Short stature,... |
OMIM:602484 |
Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Short ribs, Short stature, Camptodactyly of finger, Short n... |
ORPHA:2021 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Short neck, Ventr... |
OMIM:201000 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:2790 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, Tetralogy of Fallot, C... |
OMIM:136760 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shape... |
ORPHA:439822 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Shyness, Aggressive behavior |
OMIM:618221 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis |
OMIM:615703 |
Sandestig-Stefanova Syndrome |
|
Convex nasal ridge, Small for gestational age, Retrognathia, Muscular ventricular septal defect, ... |
OMIM:618804 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, ... |
OMIM:259600 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Severe B lymphocytopenia... |
OMIM:603554 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Failure to thrive, Atrial septal defect, Right ventricular hypert... |
OMIM:614261 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Tapered finger, Narrow palm, Single transvers... |
OMIM:216550 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal for... |
ORPHA:40 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... |
ORPHA:98827 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema |
OMIM:130700 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Insulin-resistant diabetes... |
ORPHA:90301 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acute Lympho... |
OMIM:619824 |
Pycnodysostosis |
|
Carious teeth, Rhizomelia, Hypoplasia of the maxilla, Intrauterine growth retardation, Spondyloli... |
ORPHA:763 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Osteopenia, Micrognathia, Delayed cranial suture closure, Narrow nose, Delayed erupt... |
OMIM:601812 |
Immunodeficiency 36 |
|
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, Short stature, B lymphocytopenia, C... |
OMIM:616005 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brachydactyly, Scoli... |
ORPHA:776 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Cirrhosis, Maternal diabetes, In... |
OMIM:604367 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o... |
OMIM:168400 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... |
OMIM:601356 |
Osteogenesis Imperfecta, Type Vii |
|
Pectus excavatum, Osteopenia, Decreased calvarial ossification, Micromelia, Rhizomelia, Femoral r... |
OMIM:610682 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Malar flattening, Depressed nasal bridge, Broad hallux phalanx, Broad thumb... |
ORPHA:261295 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Pancytopenia, Anemia, Thrombocyto... |
OMIM:159550 |
Chromosome 16Q22 Deletion Syndrome |
|
Narrow chest, Growth delay, Wide anterior fontanel, Prominent metopic ridge, Short neck, Wormian ... |
OMIM:614541 |
N Syndrome |
|
Neoplasm, Leukemia |
OMIM:310465 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... |
ORPHA:1836 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... |
ORPHA:521308 |
Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital h... |
OMIM:304120 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Short neck, Scoliosis, Osteoporosis, Wide nose, Joint laxity, Dela... |
OMIM:616033 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Severe postnatal growth retardation, Wide anterior fontanel |
OMIM:275100 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Disproportionate short-limb short stature, Limitation of joint mobility, Short metacar... |
ORPHA:93351 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Cranial Nerves, Recurrent Paresis Of |
|
Diabetes mellitus |
OMIM:218200 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Insulin-resistant diabetes mellitus, In... |
ORPHA:79085 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed... |
ORPHA:1248 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Insulin resistance, Hepatic st... |
OMIM:612526 |
Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... |
ORPHA:168549 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Failure to thrive, Short stature, Bone marrow hypocellulari... |
OMIM:605724 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Impaired social interactions, Inability to walk |
OMIM:606053 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocyto... |
ORPHA:98850 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Short neck, Single transverse palmar crease, Short nose, Hypoplasia of the ma... |
OMIM:305400 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Ulnar deviation of the hand, Convex nasal ridge, Congenital diaphragmatic... |
OMIM:263210 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Convex nasal ridge, Flared metaphysis, Platyspondyly, Short middle phalanx... |
OMIM:156510 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Severe short stature, Platyspondyly, Micromelia, Short palm, Flared, irregular rib end... |
ORPHA:168555 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
17Q21.31 Microduplication Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Short nose, Sa... |
ORPHA:217340 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Weight loss, Lymphadenopathy, Abnormal mast cell mo... |
ORPHA:98849 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Tal... |
OMIM:245190 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shorteni... |
ORPHA:1354 |
Catel-Manzke Syndrome |
|
Joint stiffness, Failure to thrive, Clinodactyly of the 5th finger, Atrial septal defect, Malar f... |
ORPHA:1388 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... |
ORPHA:1529 |
Larsen-Like Syndrome |
|
Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Talipe... |
OMIM:608545 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina bifida occulta, Ab... |
OMIM:613686 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Pectus excavatum, Hyperactivity, Clinodactyly of the 5th finger, Short philtrum... |
OMIM:609425 |
Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Inguinal hernia, Cognitive impairment, Abnorma... |
ORPHA:915 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology, Mitral valve prolap... |
ORPHA:90653 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Inability to walk, Congenital diaphragmatic hernia, Metatarsal osteo... |
OMIM:166300 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Increased circulating free fatty aci... |
ORPHA:2457 |
Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Intrauterine growth retardation, Convex nasal ridge, Congenital dia... |
ORPHA:2409 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Wide anterior fontanel, Decreased body weight, Atrial septal defec... |
OMIM:614886 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Neutropenia,... |
ORPHA:486 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... |
ORPHA:950 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Failure to thrive, Wide anterior fontanel, Malar flattening, Inguinal hernia, Congenital hip disl... |
OMIM:219200 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Severe short stature, Short... |
OMIM:277300 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Thanatophoric Dysplasia Type 1 |
|
Narrow chest, Kyphosis, Wide anterior fontanel, Joint stiffness, Short femur, Femoral bowing, Hyp... |
ORPHA:1860 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Dislocated radial head, Metaphyseal irregularity, Knee dislocation... |
OMIM:618395 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Posterior rib fusion, Scoli... |
OMIM:122600 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Flexion contracture, Scoliosis, Tapered finger, Long fingers, Short nose, Hyp... |
OMIM:218000 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Short nose, Hypoplasia of teeth, Los... |
OMIM:608612 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Short stature, Brachydactyly, Pos... |
OMIM:617405 |
Eng-Strom Syndrome |
|
Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis, In... |
ORPHA:1937 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Malar flattening, Horizontal sacrum, Micrognat... |
OMIM:108721 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph... |
ORPHA:277 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Short stature, Abnormality of the glenoid foss... |
ORPHA:2097 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... |
ORPHA:79345 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Perlman Syndrome |
|
Status epilepticus, Hyperinsulinemia, Inguinal hernia, Retrognathia, Micrognathia, Bilateral sing... |
ORPHA:2849 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Calvarial hyperostosis, Elevated circulating ... |
OMIM:101800 |
Shashi-Pena Syndrome |
|
Kyphosis, Atrial septal defect, Retrognathia, Broad nasal tip, Deep palmar crease, Scoliosis, Ost... |
OMIM:617190 |
Smith-Magenis syndrome |
|
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Chromosome 9P Deletion Syndrome |
|
Clinodactyly of the 4th toe, Depressed nasal bridge, Short neck, Tapered finger, Ventricular sept... |
OMIM:158170 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Decreased circulating IgA level, Wide anterior fontanel, Depresse... |
OMIM:616638 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Malar flattening, Retrognathia, Anxiety, Short nose, S... |
OMIM:613670 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Flexion contracture, Inguinal hernia, Retrognathia, Pulmoni... |
OMIM:608149 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Seizure, Hypoplasia of the maxilla, Wide nasal bridge, Small for gestational age |
OMIM:618302 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Clinodac... |
ORPHA:85279 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Verrucae, Lymphopenia, Neutropenia |
OMIM:614868 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... |
ORPHA:2114 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Pectus excavatum, Femoral bowing, Platyspondyly, Micromelia, Ovoid vertebral bodies, Small epiphy... |
OMIM:608728 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Thi... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Marden-Walker Syndrome |
|
Kyphosis, Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal he... |
OMIM:248700 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Wide anterior fontanel, Atrial septal defect, Ataxia, Contracture of the p... |
ORPHA:457279 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Hypoplasia of the ulna, Short nose, ... |
ORPHA:3258 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Failure to thrive secondary to recurrent infections, B lymphocytopenia, T lymp... |
OMIM:601457 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Acrocapitofemoral Dysplasia |
|
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Pectus excavatum, Abnormal femoral nec... |
ORPHA:63446 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Broad nasal tip, Depressed nasal bridge, Ventricular septal defect, Bowing of the lon... |
OMIM:249420 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Short stature, Hip dys... |
OMIM:226900 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Severe short stature, Short neck, Posterior rib fusion, Scoliosis,... |
ORPHA:1797 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Involuntary movem... |
OMIM:617820 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Prominent nasal tip, Atrial septal defect, Joint contracture of the hand, Inguinal hern... |
ORPHA:352490 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Aplastic anemia, Myeloid leukemia, Mediastinal lymphadenopathy, Myelodysplasia, Pancyt... |
OMIM:614742 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Cohen Syndrome |
|
Tapered finger, Narrow palm, Ventricular septal defect, Genu valgum, Hypoplasia of the maxilla, S... |
ORPHA:193 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Mental deterioration, Abnormality of ex... |
ORPHA:275864 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia, Cervical lymph... |
ORPHA:514 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Short stature, Platy... |
OMIM:604864 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Short stature, Short tibia, 11 pairs of ribs, Triphalang... |
OMIM:201170 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Pulmonic stenosis, Anterior open-bi... |
OMIM:617877 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... |
ORPHA:628 |
Dysostosis, Stanescu Type |
|
Kyphosis, Convex nasal ridge, Increased bone mineral density, Massively thickened long bone corti... |
ORPHA:1798 |
Tetrasomy 5P |
|
Failure to thrive, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus, O... |
ORPHA:3309 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... |
OMIM:184250 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Short stature, Platyspondyly, Short thorax, Abnormal ... |
ORPHA:93304 |
Intellectual Developmental Disorder, X-Linked 104 |
|
High palate, Ataxia, Poor eye contact, Hyperactivity, Retrognathia, Tremor, Aggressive behavior, ... |
OMIM:300983 |
Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Cognitive impairment, Depressed n... |
ORPHA:2662 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Talipes equinovarus, Scoliosis, Hypoplasia of the nasal bone, Knee flexion contr... |
OMIM:118650 |
Gomez-Lopez-Hernandez Syndrome |
|
Wide anterior fontanel, Ataxia, Decreased response to growth hormone stimulation test, Malar flat... |
OMIM:601853 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Prominent nasal bridge, Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Rigidity, Memory impa... |
ORPHA:401901 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Malar flattening, Ulnar deviation of the hand or of fingers of the h... |
OMIM:122880 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... |
OMIM:608681 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Kyphosis, Scoliosis, Long palm, Hypoplasia of the maxilla, Mandibular prognathia, ... |
OMIM:300676 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Kyphoscoliosis, Advanced ossification of carpal b... |
OMIM:618363 |
Monosomy 5P |
|
Recurrent fractures, Microretrognathia, Finger syndactyly, Inguinal hernia, Small hand, Short nec... |
ORPHA:281 |
Fraxe Intellectual Disability |
|
Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Stereotypical body rockin... |
ORPHA:100973 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Short... |
OMIM:184252 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Congenital diaphragmatic hernia, Depressed nasal bridge, Ventricular sept... |
ORPHA:2143 |
Thymic Aplasia With Fetal Death |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:274210 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Increased C-peptid... |
ORPHA:528 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... |
ORPHA:79140 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Platyspondyly, Herniation of intervertebral nuclei, Mit... |
OMIM:601216 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Failure to thrive, Ataxia, Inability to walk, Bulbous nose, Flexion contracture, Arachnodactyly, ... |
ORPHA:481152 |
Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Long upper lip, Stereotypical body rocking, Poor coordination, Recurrent hand flap... |
OMIM:309548 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Status epilepticus, Ataxia, Hyperinsulinemia, Reduced intraa... |
ORPHA:363400 |
Bruck Syndrome 1 |
|
Kyphosis, Coxa vara, Hip contracture, Talipes equinovarus, Short stature, Platyspondyly, Scoliosi... |
OMIM:259450 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal cardiac septum morphology, Wide anterior fontanel, Tracheomalacia, Micrognathia, Depress... |
OMIM:217980 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Wide anterior fontanel, Short distal phal... |
ORPHA:2963 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Down-sloping shoulders, Acroos... |
OMIM:248370 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Depressed nasal bridge, Broad finger, Delayed eruption of teeth... |
ORPHA:192 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Focal impaired awareness seizure, Shortening of all distal phalanges of t... |
OMIM:619135 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Wide anterior fontanel, Inability to walk, Ataxia, Focal impaired awareness seizure, Inguinal her... |
ORPHA:357058 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Talipes equinovarus, Short neck, Neonatal death, Camptodactyly, Hypothyroidism... |
OMIM:608104 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Essential Thrombocythemia |
|
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Short stature, Platyspondyly, Anterior rib... |
OMIM:602271 |
Cleft Velum |
|
Aspiration pneumonia, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Reduced bone mineral density,... |
ORPHA:2370 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Short ... |
ORPHA:166024 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Zellweger Syndrome |
|
Failure to thrive, Wide anterior fontanel, Cognitive impairment, Micrognathia, Depressed nasal br... |
ORPHA:912 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Meningioma, Nephroblastoma |
OMIM:602501 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... |
ORPHA:239 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Inappropriate crying, Micrognathia, Hyperkinetic movements, Stereotypica... |
ORPHA:397933 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Craniosynostosis, Osteopenia, Genu valgum, Hypoplasia of the maxilla, Umbilical hernia, Talipes e... |
OMIM:182212 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Pallor, Splenomegaly |
ORPHA:46532 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... |
OMIM:618963 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, R... |
ORPHA:93267 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Thin ribs, Platysp... |
OMIM:166210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Hyperextensibility of the finger joints, Micrognathia,... |
OMIM:309520 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Difficulty walking, Ge... |
ORPHA:93323 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Hypoplasia of the m... |
ORPHA:363417 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho... |
ORPHA:429 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Monkey wrench f... |
OMIM:251450 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Disproportionate short-t... |
ORPHA:93314 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Bulbous nose, Decreased circulating androgen concentration, Elbow ankylosis, Craniosynostosis, De... |
ORPHA:95699 |
Martsolf Syndrome 1 |
|
Finger joint hypermobility, Broad nasal tip, Depressed nasal bridge, Broad fingertip, Hypoplasia ... |
OMIM:212720 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Pectus excavatum... |
OMIM:264475 |
Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short toe, Atrial septal defect, Malar flattening, Short phalanx of finger, Tapered... |
OMIM:613458 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... |
ORPHA:1540 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Retrognathia, Wide nasal bridge, Unsteady gait, Small for gestational age |
OMIM:619844 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, B lymphocytopenia |
OMIM:619851 |
Cdkl5-Deficiency Disorder |
|
Poor eye contact, Everted lower lip vermilion, Broad proximal phalanges of the hand, Stereotypica... |
ORPHA:505652 |
Cofs Syndrome |
|
Joint stiffness, Micrognathia, Camptodactyly of finger, Abnormal nasal morphology, Prominent meto... |
ORPHA:1466 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Atypical Rett Syndrome |
|
Inability to walk, Hand apraxia, Tongue thrusting, Tremor, Spasticity, Impaired social interactio... |
ORPHA:3095 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Ver... |
ORPHA:217390 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... |
OMIM:619489 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... |
OMIM:190351 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... |
OMIM:614326 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnorm... |
ORPHA:93359 |
Immunodeficiency 16 |
|
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Death in infancy |
OMIM:258320 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Slender finger, Down-sloping shoulders, Short neck, Short nose, Hypoplasia of teeth, Dorsocervica... |
ORPHA:391408 |
Rubinstein-Taybi Syndrome 1 |
|
Prominent fingertip pads, Premature thelarche, Ventricular septal defect, Single transverse palma... |
OMIM:180849 |
Thoracomelic Dysplasia |
|
Narrow chest, Disproportionate short-limb short stature, Short ribs, Short neck, Hyperlordosis, B... |
ORPHA:1803 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Flexion contracture, Prominent fingertip pads, Retrognathia, Broad nasal tip, ... |
ORPHA:391372 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hepatic steatosis, Diabetes mellitus |
OMIM:615980 |
20P13 Microdeletion Syndrome |
|
Wide anterior fontanel, Decreased body weight, Brachydactyly, Polydactyly, Clinodactyly, Seizure,... |
ORPHA:313781 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... |
OMIM:608971 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Abnormally ossif... |
OMIM:613330 |
Teebi Hypertelorism Syndrome 2 |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Broad nasal tip, Depressed nasal bridge, ... |
OMIM:619736 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... |
ORPHA:3080 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Depressed nasal ridge, Craniosynostosis, Abnormality of the nares, Camptodacty... |
ORPHA:178303 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Convex nasal ridge, Inguinal hernia, Small for gestational age, P... |
OMIM:314320 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Atrial septal defect, Flexion contracture, Malar flattening, Coronal cran... |
OMIM:207410 |
Retinitis Pigmentosa |
|
Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Kyphosis, Kyphoscoliosis, Talipes equinovarus, Malar flattening, Depressed nasal bridge, Hemivert... |
OMIM:301040 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Decreased testicular... |
ORPHA:3085 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Broad nasal tip, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... |
OMIM:102510 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Severe short stature, Platyspondyly, Meso... |
OMIM:616482 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... |
ORPHA:93284 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... |
OMIM:619126 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Inguinal hernia, Small for gestational age, Premature p... |
ORPHA:3369 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
Skraban-Deardorff Syndrome |
|
Broad-based gait, Micrognathia, Hyperplasia of the maxilla, Depressed nasal bridge, Seizure, Ante... |
OMIM:617616 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... |
ORPHA:397973 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Talipes equinovarus, Tracheomalacia, Pulmonic stenosis, Micrognathia, Absence of pubertal... |
ORPHA:314679 |
Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Wide anterior fontanel, Abnormal clavicle morphology, Triphalangeal t... |
ORPHA:36 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... |
ORPHA:66661 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short distal phalanx of finger, Failure to thrive, Decreased body weight, Talipes equinovarus, Fl... |
OMIM:300534 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Failure to thrive, Overlapping toe, Inability to walk, Atrial septal defect, Decreased body weigh... |
OMIM:617452 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Hemivertebrae, Duplication ... |
OMIM:268310 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Short stat... |
OMIM:604922 |
Van Maldergem Syndrome 2 |
|
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... |
OMIM:615546 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Scoliosis, Radioulnar syno... |
ORPHA:2319 |
Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Pectus excavatum, Severe short stature, Osteopenia, Scoliosis, Biconcave ver... |
OMIM:301014 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dental malocclusion, Overlapping toe, Atrial septal defect, Low hanging columella, Muscular ventr... |
ORPHA:363444 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Depressed nasal bridge, Hemivertebrae, Ventricular septal d... |
OMIM:146510 |
Alg9-Cdg |
|
Depressed nasal bridge, Short neck, Ventricular septal defect, Lipodystrophy, Short nose, Rhizome... |
ORPHA:79328 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Extramedulla... |
ORPHA:79303 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Stroke, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarc... |
ORPHA:90064 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
Van Maldergem Syndrome 1 |
|
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... |
OMIM:601390 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Sho... |
OMIM:618218 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Prominent fingertip pads, Short neck, Single transverse palmar creas... |
OMIM:305450 |
Hereditary Geniospasm |
|
Abnormality of lower lip, Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th... |
ORPHA:1486 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Failure to thrive, Broad long bones, Macrodontia of permanent maxillary cent... |
OMIM:257850 |
Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, Depressed nasal bridge, Camptodactyly of finger, Prominent metopic ridge,... |
OMIM:616920 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Supernumerary tooth, Short sternum, Myoclonus, Bifid tongue, Bifid uvula, Micro... |
OMIM:258850 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Broad nasal tip, Tapered finger, Thick nasal alae, Narrow jaw, Wide nasal bridge |
OMIM:618147 |
Mental Retardation, X-Linked 91 |
|
Small hand, Short 5th finger, Short nose, Cubitus valgus, Short foot, Clinodactyly, Seizure, Obesity |
OMIM:300577 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Trichorhinophalangeal Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Abnormality of the denti... |
ORPHA:502 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Delayed c... |
OMIM:175700 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Single lineage myelodysplasia, Leukocytosis, Abnormal mean corpu... |
ORPHA:86839 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Wide anterior fontanel, Depressed nasal bridge, Large fontanelles, Anteverted ... |
OMIM:614883 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Aggressive behavior, Paroxysmal dyski... |
OMIM:619150 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Wide anterior fontanel, Small for gestational age, Depressed nasal bridge, Hypoplasia of the thym... |
OMIM:617241 |
Thymoma |
|
Neoplasm, Neoplasm of the lung, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Pro... |
ORPHA:99867 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... |
ORPHA:3044 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Narrow mouth, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cereb... |
ORPHA:314647 |
Acrootoocular Syndrome |
|
Anodontia, Dental malocclusion, Pectus excavatum, Supernumerary tooth, High, narrow palate, Short... |
ORPHA:2980 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening, Short stature |
ORPHA:1513 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ataxia, Inability to walk, Short neck, Tapered finger, Ventricular septal defect, Limb joint cont... |
ORPHA:505237 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Marshall-Smith Syndrome |
|
Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal widening of met... |
OMIM:602535 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Wide anterior fontanel, Talipes equinovarus, Epiphyseal stippling, Large posterior fontanelle |
OMIM:614872 |
Developmental And Epileptic Encephalopathy 73 |
|
Failure to thrive, Inguinal hernia, Flexion contracture, Scoliosis, Narrow nasal bridge, Short no... |
OMIM:618379 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level, Depress... |
OMIM:122860 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Small for gestat... |
OMIM:260400 |
Greenberg Dysplasia |
|
Narrow chest, Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calci... |
ORPHA:1426 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Malar flattening, Micrognathia, Short nose, Hypoplasia of the maxilla, Seiz... |
ORPHA:79113 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Insulin-resistant diabetes mellitus, In... |
ORPHA:435660 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Bulbous nose, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Prominent ... |
OMIM:170390 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... |
OMIM:301078 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... |
OMIM:300853 |
Lissencephaly, X-Linked, 2 |
|
Wide anterior fontanel, Micrognathia, Seizure, Prominent nasal bridge, Wide nasal bridge |
OMIM:300215 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Decreased body weight, Atrial septal defect, Retrognathia, M... |
OMIM:270450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, B-cell lymphoma, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |