Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
OMIM:167755 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
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 |
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Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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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 |
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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 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance |
ORPHA:140941 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty |
OMIM:615961 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... |
OMIM:615285 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Increas... |
ORPHA:438274 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Dyssegmental Dysplasia With Glaucoma |
|
Broad long bones, Hip contracture, Short stature, Platyspondyly, Delayed epiphyseal ossification,... |
OMIM:601561 |
Rhizomelic Syndrome |
|
Short stature, Bifid distal phalanx of the thumb, Rhizomelia, Complete duplication of thumb phala... |
OMIM:268250 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... |
ORPHA:79084 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Cortisone Reductase Deficiency 2 |
|
Premature pubarche, Insulin resistance |
OMIM:614662 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Decreased calvarial ossification, Tibial bowing, Thin ribs, Neonatal ... |
OMIM:259420 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... |
OMIM:118610 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Short stature, Finger syndactyly, Abnormal rib morpho... |
ORPHA:3268 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... |
OMIM:614470 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal irregularity, Brachydactyly, Osteoporotic tarsals, Flat acetabular roof... |
OMIM:609052 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Short stature, Abnormalit... |
ORPHA:3098 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... |
OMIM:113000 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance |
OMIM:311100 |
Sponastrime Dysplasia |
|
Abnormality of the vertebral column, Short nose, Decreased circulating antibody level, Obtuse ang... |
ORPHA:93357 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Anterior plagiocephaly, Abnormality of cranial sutures, Slender finger, Anisospondyly, Increased ... |
ORPHA:163649 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short metatarsal, Malar flattening, Diabetes mellitus, Short toe, Narrow vertebral interpedicular... |
ORPHA:280651 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Immunodeficiency 84 |
|
B lymphocytopenia, B-cell lymphoma, Perianal abscess, Splenomegaly |
OMIM:619437 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Immunodeficiency 76 |
|
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Lymphopenia, T l... |
OMIM:619164 |
Glioma Susceptibility 9 |
|
Leukemia, Glioma, Astrocytoma |
OMIM:616568 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Genu varum, Pectus carinatum, Short stature, Hyperconvex vert... |
OMIM:184255 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Pec... |
OMIM:271530 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Wormian bones, Osteope... |
ORPHA:85184 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... |
ORPHA:158057 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... |
ORPHA:231401 |
Osteogenesis Imperfecta, Type Viii |
|
Multiple prenatal fractures, Femoral bowing, Delayed cranial suture closure, Tibial bowing, Wormi... |
OMIM:610915 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Fibrochondrogenesis 1 |
|
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Anterior... |
OMIM:228520 |
Achondroplasia |
|
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Trident ... |
ORPHA:15 |
Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, O... |
OMIM:611702 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Saul-Wilson Syndrome |
|
Pectus excavatum, Intrauterine growth retardation, Talipes equinovarus, Pectus carinatum, Short s... |
OMIM:618150 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
Anauxetic Dysplasia 3 |
|
Plagiocephaly, Pectus excavatum, Short middle phalanx of finger, Midface retrusion, Beaking of ve... |
OMIM:618853 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Lymphoma... |
OMIM:616871 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal ilium morphology, Abnormality of the knee, Short stature, Abnormal vertebral morphology,... |
ORPHA:163665 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Lujan-Fryns Syndrome |
|
Micrognathia, Brachycephaly, Prominent nasal bridge, Arachnodactyly, Seizure, Brachydactyly, Atri... |
ORPHA:776 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones, Abnormal form... |
ORPHA:1801 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... |
ORPHA:86841 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:324575 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... |
OMIM:614172 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... |
ORPHA:2790 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
Fibrochondrogenesis |
|
Plagiocephaly, Hypoplastic scapulae, Short stature, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2021 |
Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2635 |
Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Abnormal de... |
ORPHA:439822 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Broad long bones, Short stature, Sclerosis of skull base, Cubitus valgus, Wormian bon... |
OMIM:269300 |
Immunodeficiency 24 |
|
Lymphoproliferative disorder, Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:... |
OMIM:615897 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Intrauterine growth retardation, Small for gestational age, Failure to thrive, Slender build, Cub... |
OMIM:608154 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Short stature, Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid proces... |
OMIM:609813 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Cachexia, Hemangioma, Lymphadenopathy, Anemia, Spleno... |
ORPHA:824 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Growth delay, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Abnormal tricuspid valve morphology, Malar flattening, Wide nasal bridge, ... |
ORPHA:2412 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Short stature, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flex... |
OMIM:602484 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... |
OMIM:619041 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... |
OMIM:609223 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Talipes equinovarus, Severe shor... |
ORPHA:2347 |
Preaxial Hallucal Polydactyly |
|
Diabetes mellitus |
OMIM:601759 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short... |
OMIM:618728 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Dispropo... |
OMIM:259440 |
Carpenter Syndrome 1 |
|
Omphalocele, Genu varum, Midface retrusion, Malar flattening, Joint contracture of the hand, Devi... |
OMIM:201000 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... |
OMIM:618987 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... |
ORPHA:280356 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Frontal cutaneous lipoma, Hypoplastic frontal sinuses, Short columella, Wide nas... |
OMIM:136760 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... |
ORPHA:181393 |
Sandestig-Stefanova Syndrome |
|
Convex nasal ridge, Intrauterine growth retardation, Small for gestational age, Rocker bottom foo... |
OMIM:618804 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio acetabuli,... |
OMIM:259600 |
Amed Syndrome, Digenic |
|
Myelodysplasia, Leukopenia, Short stature, Failure to thrive, Anemia, Bone marrow hypocellularity... |
OMIM:619151 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Wide nose, Osteoporosis, Dorsocervical fat pad, Seizure, Scoliosis... |
OMIM:616033 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Shyness, Gait ataxia, Attention deficit hyperactivity disorder |
OMIM:618221 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Narrow nose, Midface retrusion, Prominent nasal bridge, Delayed eruption of teeth, ... |
OMIM:601812 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, Failure to thrive, Short nose, Malar flattening, Sandal gap, Clinod... |
ORPHA:217340 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Cohen Syndrome |
|
Short metatarsal, Cubitus valgus, Seizure, Thoracic scoliosis, Hypoplasia of the maxilla, Microgn... |
OMIM:216550 |
Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Type II diabetes mellitus, Insulin resistance |
OMIM:615703 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Short stature, Undulate clavicles, Short metatarsal, Short ribs, Po... |
OMIM:304120 |
Pycnodysostosis |
|
Carious teeth, Decreased serum insulin-like growth factor 1, Midface retrusion, Obtuse angle of m... |
ORPHA:763 |
Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... |
ORPHA:524 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Failure to thrive, Right ventricular hypert... |
OMIM:614261 |
Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Short stature, Kyphoscoli... |
OMIM:608545 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... |
OMIM:603554 |
Chromosome 16Q22 Deletion Syndrome |
|
Growth delay, Wormian bones, Frontal bossing, Wide anterior fontanel, Narrow chest, Hip dysplasia... |
OMIM:614541 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Midface retrusion, Mandibular prognathia, Short co... |
ORPHA:1248 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Parastremmatic Dwarfism |
|
Kyphosis, Genu valgum, Severe short stature, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelodysplasia, Acute... |
ORPHA:98827 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Wormian ... |
OMIM:601356 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating... |
ORPHA:90301 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Osteolysis Syndrome, Recessive |
|
Distal radial epiphyseal osteolysis, Broad nasal tip, Osteolytic defects of the middle phalanges ... |
OMIM:259610 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Short stature, Tapered finger, Multiple joint dislocation, Irregular... |
OMIM:618395 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71526 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Short stature, Ulnar deviation of finger, Cubitus ... |
ORPHA:1836 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Irregular epiphyses, Micromelia, Small epiphyses, Bowing of the legs, Metaph... |
OMIM:608728 |
Aarskog-Scott Syndrome |
|
Broad palm, Abnormal vertebral segmentation and fusion, Cognitive impairment, Small hand, Wide na... |
ORPHA:915 |
Aarskog-Scott Syndrome |
|
Elevated circulating follicle stimulating hormone level, Short nose, Syndactyly, Anteverted nares... |
OMIM:305400 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Broad thumb, Malar flattening, Wide nasal bridge, S... |
ORPHA:261295 |
Osteogenesis Imperfecta, Type Vii |
|
Decreased calvarial ossification, Pectus excavatum, Short stature, Bowing of the legs, Multiple r... |
OMIM:610682 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Talipes equinovarus, Malar flattening, Hitchhiker thumb, Elbow disl... |
OMIM:108721 |
N Syndrome |
|
Leukemia, Neoplasm |
OMIM:310465 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Underdeveloped nasal alae, Intrauterine growth retardation, Abnormality of the upper limb, Wide n... |
ORPHA:521308 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Cognitive impairment, Short nose, Craniosynostosis, Malar flattening, Wormian bone... |
OMIM:601853 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Enlarged metacarpal epiphyses, Broad toe, Cupped ribs, Short long bone, Flat acetabular roof, Con... |
OMIM:609616 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Wide anterior fontanel, Severe postnatal growth retardation |
OMIM:275100 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Large fontanelles, Brachycephaly, Short stature, Bowing of the ... |
ORPHA:2097 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Convex nasal ridge, Omphalocele, Ulnar deviation of the ... |
OMIM:263210 |
Cranial Nerves, Recurrent Paresis Of |
|
Diabetes mellitus |
OMIM:218200 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepati... |
ORPHA:79085 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Myelodysplasia, Pancytopenia |
OMIM:614038 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Platyspondyly, Severe short stature, Coxa vara, Short palm, Limitatio... |
ORPHA:168555 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Carious teeth, Intrauterine growth retardation, Failure to thrive, Short nose, Malar flattening, ... |
OMIM:219200 |
Acrodysostosis |
|
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Abnormal form of the... |
ORPHA:950 |
Intellectual Developmental Disorder, X-Linked 104 |
|
High palate, Aggressive behavior, Poor eye contact, Wide nasal bridge, Tremor, Ataxia, Hyperactiv... |
OMIM:300983 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer |
OMIM:619096 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia, Aplastic anemia |
OMIM:614743 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Diabetes m... |
OMIM:612526 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... |
ORPHA:168549 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Weight loss, Bone marrow hypocellula... |
ORPHA:3226 |
Fanconi Anemia, Complementation Group D1 |
|
Intrauterine growth retardation, Short stature, T-cell acute lymphoblastic leukemias, Failure to ... |
OMIM:605724 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Seizure, Anteverted nares, Umbilical hernia, Prominent nasal tip, ... |
ORPHA:352490 |
Thanatophoric Dysplasia Type 1 |
|
Short greater sciatic notch, Cloverleaf skull, Abnormal sacroiliac joint morphology, Bowing of th... |
ORPHA:1860 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Impaired social interactions, Stereotypy |
OMIM:606053 |
Chromosome 3Q29 Deletion Syndrome |
|
Pectus excavatum, Short philtrum, Pectus carinatum, Tapered finger, Long fingers, Aggressive beha... |
OMIM:609425 |
Campomelic Dysplasia |
|
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... |
OMIM:114290 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short 5th metacarpal, Metaphyseal dysplasia, Multiple small vertebral fractur... |
OMIM:156510 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Weight loss, Ane... |
ORPHA:98850 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance |
OMIM:617885 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Brachycephaly, Tapered finger, Long fingers, Short nose, Wide nasal bridge, S... |
OMIM:218000 |
Kniest-Like Dysplasia, Lethal |
|
Coronal cleft vertebrae, Talipes equinovarus, Rhizomelia, Metaphyseal irregularity, Platyspondyly... |
OMIM:245190 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eosinophilia... |
ORPHA:98849 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Growth delay, Short stature, Splenomegaly, B-cell lymphoma, Lymphopenia |
OMIM:616005 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Catel-Manzke Syndrome |
|
Micrognathia, Ventricular septal defect, Metatarsus valgus, Failure to thrive, Abnormality of epi... |
ORPHA:1388 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis, Mesomelic/rhizome... |
ORPHA:1354 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Plagiocephaly, Bicuspid aortic valve, Ventricular septal defect, Hypoglycemia, Abnormal heart mor... |
ORPHA:457279 |
Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Midface retrusion, Metaphyseal... |
OMIM:269250 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Aplasia/Hyp... |
ORPHA:1529 |
Perlman Syndrome |
|
Micrognathia, Short nose, Wide nasal bridge, Inguinal hernia, Seizure, Status epilepticus, Bilate... |
ORPHA:2849 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morphology, Bowing of the long bone... |
ORPHA:93267 |
Lowry-Maclean Syndrome |
|
Small anterior fontanelle, Short nose, Seizure, Hypoplasia of the maxilla, Choanal atresia, Micro... |
ORPHA:2409 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circulating thyroid-s... |
OMIM:101800 |
Pycnodysostosis |
|
Spondylolysis, Short stature, Osteolytic defects of the distal phalanges of the hand, Wormian bon... |
OMIM:265800 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Depressed nasal bridge, Decreased circulating IgA level, Rhizomelia, Short nose, La... |
OMIM:616638 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Failure to thrive, Lymphopenia, T lymphocytopenia, Absence of ... |
ORPHA:277 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse, Abnormality of epiphysis morphology, Short nose, Platyspondyly, Joint hype... |
ORPHA:90653 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Micrognathia, Ventricular septal defect, Long nose, Broad thumb, Prominent nasal bridge, Arachnod... |
OMIM:309520 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Aggressive behavior, Short nose, Malar flattening, Drooling, Speech apra... |
OMIM:613670 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Abnormal sacrum morphology, Posterior rib fusion, Short thorax, ... |
ORPHA:1797 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... |
ORPHA:1159 |
Kagami-Ogata Syndrome |
|
Omphalocele, Micrognathia, Ventricular septal defect, Depressed nasal bridge, Coxa valga, Long fi... |
OMIM:608149 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... |
OMIM:122600 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Shashi-Pena Syndrome |
|
Broad nasal tip, Hypoglycemia, Osteoporosis, Kyphosis, Seizure, Atrial septal defect, Retrognathi... |
OMIM:617190 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... |
ORPHA:401901 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Monocytosis, Leukemia, Hemangioma, Acu... |
ORPHA:486 |
Diastrophic Dysplasia |
|
Midface retrusion, Symphalangism affecting the phalanges of the hand, Abnormal form of the verteb... |
ORPHA:628 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Weight loss, B-cell lymphoma, Splenomegaly |
ORPHA:52416 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Epiphyseal stippling, Talipes equinovarus, Knee fl... |
OMIM:118650 |
Eng-Strom Syndrome |
|
Pectus excavatum, Intrauterine growth retardation, Short stature, Arthritis, Camptodactyly of fin... |
ORPHA:1937 |
Mandibuloacral Dysplasia |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Acroosteolysis of ... |
ORPHA:2457 |
Frank-Ter Haar Syndrome |
|
Talipes equinovarus, Camptodactyly, Anteverted nares, Delayed cranial suture closure, Short long ... |
OMIM:249420 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Spindle-shaped finger, Short stature, Abnormal vertebral morphology, Delayed ep... |
ORPHA:166024 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Short nose, Abnormal dental enamel morphology, Malar flatt... |
ORPHA:3258 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... |
ORPHA:2501 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance |
OMIM:606721 |
Greenberg Dysplasia |
|
Midface retrusion, Severe short-limb dwarfism, Anterior rib punctate calcifications, Rhizomelia, ... |
ORPHA:1426 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short 5th metacarpal, Short nose, Perimembranous ventricular septal defect, Pulmonic stenosis, Sa... |
OMIM:617877 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608631 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Marshall-Smith Syndrome |
|
Omphalocele, Short nose, Malar flattening, Atlantoaxial dislocation, Anteverted nares, Decreased ... |
OMIM:602535 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... |
ORPHA:2114 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Convex nasal ridge, Toe syndactyly, M... |
ORPHA:1540 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... |
ORPHA:79345 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinatum, Short me... |
OMIM:271650 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Brachydactyly, Stereotypy |
DECIPHER:8 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Neonatal short-limb short stature, Short long bone, Limb undergrowth, Short ribs, Seve... |
OMIM:151210 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... |
ORPHA:1798 |
Marden-Walker Syndrome |
|
Dextrocardia, Micrognathia, Intrauterine growth retardation, Talipes equinovarus, Congenital cont... |
OMIM:248700 |
Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short stature, Short thora... |
ORPHA:63446 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Talipes equinovarus, Tapered finger, Prominent nasal bridge, Seizure, Camptodactyly of finger, Sh... |
ORPHA:85279 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Verrucae, Neutropenia, Lymphopenia |
OMIM:614868 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Myoclonus, Reduc... |
ORPHA:363400 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Smooth philtrum, Choreoathetosis, Self-injurious behavior, Short... |
OMIM:618218 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... |
ORPHA:275864 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... |
OMIM:226900 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Acroosteolysis of distal phalanges (feet), D... |
OMIM:608612 |
Tetrasomy 5P |
|
Short hallux, Micrognathia, Talipes equinovarus, Failure to thrive, Long fingers, Short nose, Wid... |
ORPHA:3309 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187601 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Mandib... |
ORPHA:397973 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Mild short stature, Epiphyseal dysplas... |
OMIM:617719 |
Craniodiaphyseal Dysplasia |
|
Diaphyseal thickening, Short stature, Frontal bossing, Craniofacial hyperostosis, Abnormal rib mo... |
ORPHA:1513 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Triphalangeal thumb, Short stature, Fibular hypoplasia, Overlapping toe, 11 pairs of ribs, Wide a... |
OMIM:201170 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... |
OMIM:604367 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... |
OMIM:604864 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Cranial asymmetry, Delayed closure of the anterior fontanelle, Double outlet righ... |
OMIM:614886 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Delayed pubic bo... |
OMIM:184250 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, C... |
ORPHA:514 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300425 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608636 |
Autism |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:209850 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Anemia, Myeloid leukemi... |
OMIM:614742 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Brachyturricephaly, Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Anteverted... |
OMIM:182212 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Joint contracture of the hand, Seizure, Broad hallux, Delayed cranial sutur... |
OMIM:175700 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Short thorax, Platyspondyly, Abnormality of the metaphysis, Increa... |
ORPHA:93304 |
Greenberg Dysplasia |
|
Omphalocele, Epiphyseal stippling, Neonatal death, Malar flattening, Abnormal bone structure, Mul... |
OMIM:215140 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Mandibular prognathia, Failure to thrive, Abnormal heart morphology, Short nose,... |
ORPHA:391372 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly,... |
OMIM:608971 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Tapered finger, Long fingers, Short nose, Malar flattening, Proximal p... |
OMIM:613458 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Fraxe Intellectual Disability |
|
Clumsiness, Aggressive behavior, Stereotypical body rocking, Clinodactyly of the 5th finger, Hype... |
ORPHA:100973 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Femoral bowing, Depressed nasal bridge, Choanal stenosis, Rocker bottom foot, Brachycephaly, Narr... |
OMIM:207410 |
Cohen Syndrome |
|
Cubitus valgus, Finger syndactyly, Seizure, Hypoplasia of the maxilla, Micrognathia, Ventricular ... |
ORPHA:193 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral clefting, Disproportionate short-trunk short stature, Rib fusion, Short ... |
OMIM:608681 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Talipes equinovarus, Vertebral wedging, Pectus carina... |
OMIM:259450 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... |
ORPHA:95699 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Short nose, M... |
OMIM:122880 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Long upper lip, Poor coordination, Aggressive behavior, Stereotypical body rocking, Hyperactivity... |
OMIM:309548 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Broad nasal tip, Midface retrusion, Short distal phalanx of finger, Hypoplasia of the maxilla, Os... |
ORPHA:2776 |
Zellweger Syndrome |
|
Flat occiput, Micrognathia, Ventricular septal defect, Depressed nasal bridge, Epiphyseal stippli... |
ORPHA:912 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Seizure, Syndactyly, Broad hallux, Camptodactyly, Choanal atresia,... |
OMIM:305450 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis, Prominent nasal bridge |
OMIM:608432 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:274210 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Metatarsal osteolysis, Wrist swelling, Ulnar deviation of the hand, Ulnar deviation... |
OMIM:166300 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Spasticity |
OMIM:615493 |
Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Seizure, Brachydactyly, Antever... |
ORPHA:192 |
Atypical Rett Syndrome |
|
Inappropriate crying, Poor eye contact, Panic attack, Impaired social interactions, Gait disturba... |
ORPHA:3095 |
Monosomy 5P |
|
Intrauterine growth retardation, Abnormality of bone mineral density, Small hand, Wide nasal brid... |
ORPHA:281 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... |
OMIM:614188 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Coronal cleft vertebrae, Hip contracture,... |
OMIM:618363 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Micrognathia, Depressed nasal bridge, Short nose, Hernia, Cardiomyopathy, Proximal placement of t... |
OMIM:217980 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Precocious puberty in females, Bone cyst, Insulin resistance, Mandib... |
ORPHA:528 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79140 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Narrow greater sciatic notch, Rhizomelia, Meta... |
OMIM:608940 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Congenital hypothyroidism, Depressed nasal bridge, Intrauterine growth ret... |
OMIM:614613 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short nose, Malar ... |
OMIM:251450 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Inappropriate crying, Micrognathia, Self-injurious behavior, Stereotypical hand wringing, Hyperki... |
ORPHA:397933 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Short neck, Coxa vara... |
OMIM:184252 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Flat capital femoral epiphys... |
OMIM:614135 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Acrocallosal Syndrome |
|
Short nose, Finger syndactyly, Seizure, Microretrognathia, Umbilical hernia, Toe syndactyly, Fron... |
OMIM:200990 |
Dental Anomalies And Short Stature |
|
Herniation of intervertebral nuclei, Intervertebral space narrowing, Mitral valve prolapse, Mandi... |
OMIM:601216 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Growth delay, Ascites, Short stature, Anemia, Decreased osteoclast count, Splenomeg... |
OMIM:259720 |
Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia |
ORPHA:99772 |
Keipert Syndrome |
|
Short hallux, Broad hallux phalanx, Depressed nasal bridge, Broad thumb, Cognitive impairment, Br... |
ORPHA:2662 |
Ritscher-Schinzel Syndrome 3 |
|
Poorly ossified vertebrae, Micrognathia, Epiphyseal stippling, Atrioventricular canal defect, Sho... |
OMIM:619135 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, F... |
OMIM:617514 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Failure to thrive, Reduced red cell adenosine deaminase level, S... |
OMIM:102700 |
Progeroid Syndrome, Petty Type |
|
Shagreen patch, Intrauterine growth retardation, Mandibular prognathia, Failure to thrive, Reduce... |
ORPHA:2963 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Dystonia, Ventricular septal defect, Intrauterine growth retardation, ... |
OMIM:272440 |
Alg9-Cdg |
|
Omphalocele, Broad ischia, Talipes equinovarus, Torticollis, Short nose, Abnormal left ventricula... |
ORPHA:79328 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Distal Monosomy 12Q |
|
2-3 toe syndactyly, Short middle phalanx of finger, Bulbous nose, Diabetes mellitus, Broad hallux... |
ORPHA:96149 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Brachycephaly, Abnormal sacrum morphology, Abnormal form of the vertebral bod... |
ORPHA:93262 |
Acrocallosal Syndrome |
|
Prominent occiput, Wide anterior fontanel, Triphalangeal thumb, Postaxial hand polydactyly |
ORPHA:36 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Thin ribs, Short stature, Delayed closure of the anterior fontanelle, Asymmetry of the thorax, In... |
OMIM:604922 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Anal canal squamous carcinoma, Verrucae, Squamous cell carcinoma, Squamous cel... |
ORPHA:217390 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Mild sho... |
OMIM:132400 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Large fontanelles, Limb undergro... |
OMIM:166210 |
Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Abnormal social behavior, Oculogyric crisis, Anxiety, Lethargy, Gait ... |
ORPHA:255 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Small anterior fontanelle, Ventricular septal defect, Convex nasal ridge, Small for gestational a... |
OMIM:314320 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Spasticity |
ORPHA:356996 |
Essential Thrombocythemia |
|
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Abnormal form of the vertebral bodies, Short nose, Abnormality o... |
ORPHA:2370 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Short stature, Missing ribs... |
OMIM:613686 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Thin ribs, Short stature, Hypoplastic iliac wing, Metaphyseal cu... |
OMIM:300863 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Disproportionate short stature, Rhizomelia, Platyspondyly, Kyphosis, Frontal bossing, Severe shor... |
OMIM:616482 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Short thorax,... |
ORPHA:239 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... |
OMIM:607326 |
Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Abnormality of ulnar ... |
ORPHA:85198 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... |
OMIM:618963 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... |
ORPHA:93314 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Okur-Chung Neurodevelopmental Syndrome |
|
Micrognathia, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:617062 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Martsolf Syndrome 1 |
|
Metatarsus adductus, Micrognathia, Broad nasal tip, Depressed nasal bridge, Slender ulna, Talipes... |
OMIM:212720 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short nose, Hypoplasia of the maxil... |
ORPHA:363417 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Cleft palate, Bifid uvula |
OMIM:258320 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Duplication of the distal phalanx of hand, Short nose, Malar flattening, Broad toe, Hypoplastic s... |
OMIM:268310 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Ac... |
OMIM:248370 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small anterior fontanelle, Large beaked nose, Ventricular septal defect, Metopic suture patent to... |
ORPHA:3369 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Hypochondroplasia |
|
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... |
ORPHA:429 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Bilateral tonic-clonic seizure, Failure to thrive, Broad thumb, Arachnod... |
ORPHA:481152 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement... |
OMIM:223800 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Gait disturbance, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... |
OMIM:600795 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... |
OMIM:601399 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Pectus excavatum, Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Sand... |
OMIM:264475 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Athetosis, Dystonia, Intrauterine growth retardation, Increased susceptibility to fractures, Foca... |
ORPHA:357058 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Long palm, Mandibular prognathia, Slender build, Prominent nasal bridge, Kyphosis, Hypoplasia of ... |
OMIM:300676 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Hepatocellular carcinoma, Elevated hepatic iro... |
ORPHA:231222 |
Developmental And Epileptic Encephalopathy 73 |
|
Failure to thrive, Short nose, Seizure, Hip dysplasia, Narrow nasal bridge, Flexion contracture, ... |
OMIM:618379 |
Thoracomelic Dysplasia |
|
Diaphyseal thickening, Limb undergrowth, Abnormality of pelvic girdle bone morphology, Disproport... |
ORPHA:1803 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Talipes equinovarus, Short stature, Limited elbow extension, Elbow flexion contracture, Pectus ca... |
ORPHA:93359 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Talipes equinovarus, Seizure, Decreased body weight, Ventricular septal defect, Intrauterine grow... |
OMIM:617452 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Sarcoma, M... |
ORPHA:66661 |
Cofs Syndrome |
|
Micrognathia, Intrauterine growth retardation, Prominent metopic ridge, Wide nasal bridge, Arthro... |
ORPHA:1466 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... |
OMIM:190351 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Underdeveloped nasal alae, Micrognathia, Narr... |
OMIM:257850 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly |
OMIM:615593 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Bulbous nose, Hypoplasia of the ... |
OMIM:170390 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Intellectual Disability, Wolff Type |
|
Large hands, Wide nasal bridge, Seizure, Bulbous nose, Short distal phalanx of finger, Camptodact... |
ORPHA:3080 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypoglycemia, Deviation of the 5th toe, Short nose, Slender finger, Seizure, Diabetes mellitus, A... |
ORPHA:391408 |
20P13 Microdeletion Syndrome |
|
Failure to thrive in infancy, Polydactyly, Prominent nasal bridge, Finger syndactyly, Seizure, Wi... |
ORPHA:313781 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Talipes equinovarus, Mandibular prognathia, Failure to thrive, Large hands, Cubitus... |
OMIM:300534 |
Pyle Disease |
|
Metaphyseal dysplasia, Thickened calvaria, Metaphyseal widening, Platyspondyly, Abnormal thorax m... |
OMIM:265900 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Mullegama-Klein-Martinez Syndrome |
|
Prominent nose, Micrognathia, Depressed nasal bridge, Polydactyly, Failure to thrive, Congenital ... |
OMIM:301022 |
Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Trigonocephaly, Short nose, Malar flattening, Seizure, Preaxial hand polydactyly, A... |
ORPHA:79113 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Ventricular septal defect, Intrauterine growth retardation, Increased serum insulin... |
OMIM:270450 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Talipes equinovarus, Seizure, Decreased body weight, Toe syndactyly, Ventricular septal defect, I... |
ORPHA:505237 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Foxg1 Syndrome |
|
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Excessive salivation, Choreoatheto... |
ORPHA:561854 |
Acrofrontofacionasal Dysostosis 2 |
|
Short stature, Brachycephaly, Sacral dimple, Syndactyly, Wide anterior fontanel, Broad hallux, Ha... |
OMIM:239710 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hand clenching, Prominent metopic ridge, Wide ... |
OMIM:616920 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Sprengel Deformity |
|
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... |
OMIM:184400 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Metaphyseal wi... |
OMIM:187760 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Congenital diaph... |
OMIM:222448 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly |
ORPHA:100024 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism, De... |
ORPHA:3085 |
Hereditary Spherocytosis |
|
Hepatomegaly, Growth delay, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, I... |
ORPHA:822 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Micrognathia, 2-3 toe syndactyly, Tapered finger, Short nose, Kyphosis, Seizure, Attention defici... |
OMIM:617061 |
Van Maldergem Syndrome 2 |
|
Cutaneous finger syndactyly, Micrognathia, Abnormality of the hand, Short 4th metacarpal, Midface... |
OMIM:615546 |
Feingold Syndrome 2 |
|
2-3 toe syndactyly, Short stature, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
OMIM:614326 |
Smith-Magenis Syndrome |
|
Broad palm, Brachycephaly, Mandibular prognathia, Abnormal heart morphology, Malar flattening, Wi... |
OMIM:182290 |
8Q22.1 Microdeletion Syndrome |
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Depressed nasal ridge, Craniosynostosis, Wide nasal bridge, Finger syndactyly, Hypogonadism, Sand... |
ORPHA:178303 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
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Babinski sign, Shyness, Dystonia, Everted upper lip vermilion, High palate, Wide mouth, Short phi... |
ORPHA:280763 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Elevated circulating parathyroid hormone level, Depressed nasal bridge, Mandibular prognathia, Co... |
OMIM:122860 |
Cole-Carpenter Syndrome |
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Intrauterine growth retardation, Short stature, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:2050 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Carious teeth, Long nose, Abnormal heart morphology, Perimembranous ventricular septal defect, Lo... |
ORPHA:363444 |
Juberg-Hayward Syndrome |
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Toe syndactyly, Intrauterine growth retardation, Abnormality of the elbow, Hammertoe, Abnormal ve... |
ORPHA:2319 |
Immunodeficiency 75 |
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Decreased proportion of class-switched memory B cells, Lymphadenopathy, Lymphoma, Hepatosplenomeg... |
OMIM:619126 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Failure to thrive in infancy, Depressed nasal bridge, Small for gestational age, Hypoplasia of th... |
OMIM:617241 |
Osteogenesis Imperfecta, Type Xix |
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Biconcave vertebral bodies, Pectus excavatum, Vertebral wedging, Pectus carinatum, Rhizomelia, Os... |
OMIM:301014 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Tarsal synostosis, Large posterior fontanelle, Plagiocephaly, Brachycephaly, Abnormal clavicle mo... |
ORPHA:85199 |
Mend Syndrome |
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Micrognathia, 2-3 toe syndactyly, Failure to thrive, Abnormal heart morphology, Long fingers, Pro... |
ORPHA:401973 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Pallister-Hall Syndrome |
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Neonatal death, Short nose, Distal shortening of limbs, Seizure, Adrenal hypoplasia, Syndactyly, ... |
OMIM:146510 |
Van Maldergem Syndrome 1 |
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Cutaneous finger syndactyly, Micrognathia, Abnormality of the hand, Short 4th metacarpal, Midface... |
OMIM:601390 |
Skraban-Deardorff Syndrome |
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Micrognathia, Depressed nasal bridge, Spastic gait, Seizure, Hyperplasia of the maxilla, Broad-ba... |
OMIM:617616 |
Orofaciodigital Syndrome Iii |
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Pectus excavatum, Microdontia, Tongue nodules, Myoclonus, Supernumerary tooth, Bifid uvula, Short... |
OMIM:258850 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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Micrognathia, Hip contracture, Adducted thumb, Short columella, Wide nasal bridge, Enlarged naris... |
OMIM:616266 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
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Microdontia, Oligodontia, Short finger, Supernumerary tooth, Short proximal phalanx of finger, Sh... |
OMIM:191482 |
Trimethylaminuria |
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Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:618495 |
Cerebrofacioarticular Syndrome |
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Micrognathia, Large fontanelles, Talipes equinovarus, Abnormal heart morphology, Absence of puber... |
ORPHA:314679 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
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Small for gestational age, Brachycephaly, Mandibular prognathia, Hypoplasia of the maxilla, Decre... |
ORPHA:93950 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Death in infancy, Pulmonary hypoplasia |
OMIM:614096 |
Acute Peripheral Arterial Occlusion |
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Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Stroke, Ab... |
ORPHA:90064 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Flat occiput, Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Enlargement of ... |
OMIM:600081 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Thanatophoric Dysplasia, Type I |
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Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187600 |
Hereditary Geniospasm |
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Abnormal social behavior, Abnormality of lower lip, Chin myoclonus |
ORPHA:53372 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... |
OMIM:619150 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
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Broad nasal tip, Tapered finger, Wide nasal bridge, Narrow jaw, Thick nasal alae |
OMIM:618147 |
Palatopharyngeal Incompetence |
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Cleft palate, Velopharyngeal insufficiency |
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