Gene Summary

Name:
nuclear receptor co-repressor 2
Synonyms:
SMRT,  SMRTe

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal craniofacial morphology Ncor2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Ncor2em1(IMPC)Mbp HOM E15.5 0.00
increased lean body mass Ncor2Ncor2 HOM Early adult 5.12×10-05
abnormal placenta vasculature Ncor2em1(IMPC)Mbp HOM E15.5 0.00
long tibia Ncor2Ncor2 HET   Early adult 1.53×10-06
persistence of hyaloid vascular system Ncor2em1(IMPC)Mbp HET   Early adult 6.06×10-06
abnormal blood vessel morphology Ncor2em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Ncor2em1(IMPC)Mbp HET E15.5 0.00
edema Ncor2em1(IMPC)Mbp HOM E15.5 0.00
abnormal tail movements Ncor2Ncor2 HOM   Early adult 3.46×10-05
increased prepulse inhibition Ncor2Ncor2 HET   Early adult 1.32×10-06
increased startle reflex Ncor2Ncor2 HOM Early adult 1.32×10-11
abnormal tail movements Ncor2Ncor2 HET   Early adult 1.70×10-05
abnormal blood vessel morphology Ncor2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Ncor2em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Ncor2em1(IMPC)Mbp HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

Human diseases caused by Ncor2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ncor2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Megakaryocyte nucleus hypolobulation, Bone marrow hypercellularity, Myelofibrosis, ... ORPHA:86843
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Essential Thrombocythemia
Increased megakaryocyte count, Myelofibrosis, Abnormality of bone marrow cell morphology, Splenom... ORPHA:3318
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Bone marrow hypocellularity, Hyperosto... OMIM:231095
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Fever OMIM:254450
Beta-Thalassemia Intermedia
Hypothyroidism, Osteoporosis, Abnormality of iron homeostasis, Diabetes mellitus, Persistence of ... ORPHA:231222
Castleman Disease
Myelofibrosis, Abdominal mass, Generalized lymphadenopathy, Elevated circulating C-reactive prote... ORPHA:160
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Thrombocytopenia 6
Bone marrow hypercellularity, Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Hyperinsulinemia, Delayed puberty, O... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Hyperinsulinemia, Delayed puberty, O... ORPHA:71526
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy... ORPHA:231226
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Thrombocytopenia, Splenomegaly OMIM:139090
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy... ORPHA:231214
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Pancreatitis, Thrombocytopenia, Thromboc... ORPHA:3260
Multiple Symmetric Lipomatosis
Multiple lipomas, Joint stiffness, Insulin resistance, Hepatomegaly, Abnormal adipose tissue morp... ORPHA:2398
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia,... OMIM:615285
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Microcephaly, Atrial septal defect, Ventricular septal defect, Thin corpus callosum OMIM:614249
Polycythemia Vera
Myelofibrosis, Portal hypertension, Splenomegaly, Hepatomegaly, Acute leukemia, Weight loss ORPHA:729
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Abnormality ... OMIM:612840
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Primary Myelofibrosis
Pancytopenia, Bone marrow hypercellularity, Hepatosplenomegaly, Leukocytosis, Portal hypertension... ORPHA:824
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipo... ORPHA:280356
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Decreased circulating T4 level, Prolonged neona... ORPHA:95717
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Decreased adiponectin level, Diabetes mellitus, Pancreatitis, Acroosteo... ORPHA:280365
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Myelofibrosis, Thrombocytopenia OMIM:187900
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Splenomegaly, Abnormal cortical bone morphology ORPHA:1802
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... ORPHA:79084
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Absent ossification of capital femoral epiphysis, Goiter, Congenital h... ORPHA:226313
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Delayed proximal femoral epiphyseal ossification, Reduced ra... ORPHA:95716
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Myeloid leukemia OMIM:616604
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hepatomegaly, Decreased adiponectin level, ... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatoce... OMIM:251880
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Decreased adiponectin leve... OMIM:615238
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Osteoporosis, Hepatome... OMIM:615381
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol c... OMIM:615703
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Myelofibrosis, Atrial septal defect, Joint laxity, Hypertrophic cardio... OMIM:607721
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Tibial bowing, Flared metaphysis, Shor... ORPHA:93356
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Osteopenia, Insulin resistance, Hyperinsulinemia, Flexion contr... OMIM:613327
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Proteus Syndrome
Multiple lipomas, Lymphangioma, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin ... OMIM:176920
Mu-Heavy Chain Disease
Abnormality of bone marrow cell morphology, Osteoporosis, Splenomegaly, Hepatomegaly, Fever, Abno... ORPHA:100024
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Pancytopenia, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Insulin resistance, Lipoatrophy ORPHA:79087
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Abnormal s... ORPHA:79303
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneo... ORPHA:435651
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutane... OMIM:604367
Mody
Exocrine pancreatic insufficiency, Glycosuria, Large for gestational age, Neonatal hypoglycemia, ... ORPHA:552
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Mandibuloacral Dysplasia
Reduced intrathoracic adipose tissue, Insulin resistance, Hyperinsulinemia, Increased subcutaneou... ORPHA:2457
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Osteopenia, Hepatosplenomegaly, Coronal craniosynostosis, Incom... ORPHA:313855
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the tibial metaphysis ORPHA:2768
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Ventricular septal hypertrophy, Ventricular septal defect, Abnormal cerebral white ... OMIM:614947
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right ventricle, Ven... ORPHA:1209
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Unicameral bone cyst... ORPHA:79086
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Osteoporosis, Truncal obesity, Failu... ORPHA:73272
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Cholestasis, Myocarditis, Fever, Neutro... ORPHA:292
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Mantle Cell Lymphoma
Abnormality of bone marrow cell morphology, Splenomegaly, Fever, Lymphadenopathy, Weight loss ORPHA:52416
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis, Hypothermia OMIM:309400
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Thrombocytopenia, Abnormal oral glucos... ORPHA:2298
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Hypertrophic cardiomyopathy, Splenomegaly, Lipoatrophy, Lo... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Hypertrophic cardiomyopathy, Sp... ORPHA:2348
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly OMIM:614326
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Feingold Syndrome Type 2
Microcephaly, Ventricular septal defect ORPHA:391646
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Arthritis, Thickened cortex of bones, Joint stiffness ORPHA:564003
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Reduced radioactive iodine uptake, Impaired sen... ORPHA:90673
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Osteoporosis, Abnormality of iron homeostasis, Diabetes mellitus, Cardiomegaly, I... ORPHA:465508
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Delayed proximal femoral epiphyseal... ORPHA:90674
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Failure to thrive, Hyperglycinemia, Hypertaurinemia, Hypothermia OMIM:245400
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Ventricul... OMIM:614980
Mmep Syndrome
Microcephaly, Ventricular septal defect ORPHA:3434
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Fadd-Related Immunodeficiency
Cerebral atrophy, Ventricular septal defect ORPHA:306550
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Fasting hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasm... ORPHA:159
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Cerebral atrophy, Ventricular septal defect OMIM:613759
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Small for gestational age, Atrial ... ORPHA:26793
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Reduced bone ... ORPHA:172
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased ... ORPHA:179494
Primary Erythromelalgia
Leukemia, Hypothermia ORPHA:90026
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, Leukopenia, Nonketotic hypoglycemia, Leukocytosis, Th... ORPHA:20
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect ORPHA:357225
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Limited elbow flexion, Thin bony... ORPHA:79106
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Ventricular septal defect, Hypoplasia of the corpus callosum OMIM:616816
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Hypertroph... ORPHA:848
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Fever, Anemia, Lymphade... ORPHA:37748
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Splenomegaly, Myocarditis, Hepatomegaly, Fever,... ORPHA:3452
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Hypertrophic cardiomyopathy, Elevated circulating crea... OMIM:618775
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal bone structure, Multiple bony cystic lesions, Mandi... ORPHA:83451
Delpire-Mcneill Syndrome
Ventricular septal defect, Agenesis of corpus callosum, Cortical dysplasia OMIM:619083
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Ck Syndrome
Slender build, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Enamel hypoplasia, Secondary ... OMIM:264700
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Coffin-Siris Syndrome 10
Microcephaly, Ventricular septal defect OMIM:618506
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Osteoporosis, Spleno... OMIM:235200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Hyperlipidemia, Decreased a... OMIM:608612
Infantile Sialic Acid Storage Disease
Osteopenia, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Fa... OMIM:269920
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Jaundice, Goiter, Umbilical hernia, Hypothermia ORPHA:226292
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Hepatomegaly, Jaundice, Splenomegaly, Failure to thrive, Biliary tract abnormality,... ORPHA:79301
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Enamel hypoplasia, Secondary ... OMIM:277440
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Xk Aprosencephaly Syndrome
Microcephaly, Atrial septal defect, Ventricular septal defect ORPHA:3469
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Osteolytic defects of the distal phalanges of the hand, Gener... ORPHA:90154
Menkes Disease
Hypoglycemia, Atypical scarring of skin, Recurrent fractures, Hernia, Osteoporosis, Inguinal hern... ORPHA:565
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Periventricular heterotopia, Ventricular septal d... OMIM:618974
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Dentinogenesis imperfecta, Abnormal cortical bone morphology, Patho... ORPHA:166277
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia OMIM:615085
Majeed Syndrome
Leukocytosis, Increased bone mineral density, Congenital hypoplastic anemia, Flexion contracture,... ORPHA:77297
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Joint stiffness, Hyperinsulinemia, Hyperlipidemia, Increased ... OMIM:248370
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Failure to thrive, Delayed epiphys... OMIM:600081
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Camptodactyly of finger, Coarse metaphyseal tr... ORPHA:2635
Caffey Disease
Cortical irregularity, Cellulitis, Fever, Periosteal thickening of long tubular bones, Calvarial ... ORPHA:1310
Spondylometaphyseal Dysplasia, Sedaghatian Type
Brachydactyly, Widened greater sciatic notch, Metaphyseal irregularity, Cone-shaped metacarpal ep... OMIM:250220
Angioosteohypotrophic Syndrome
Thin bony cortex, Abnormal trabecular bone morphology ORPHA:75508
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Sparse bone trabeculae, Enamel hypoplasia, Hypocalcemia, Increased suscept... ORPHA:289157
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Fever, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Alexander Disease
Hypothyroidism, Osteopenia, Failure to thrive, Precocious puberty, Diabetes mellitus, Hypothermia ORPHA:58
Farber Lipogranulomatosis
Limitation of knee mobility, Lipogranulomatosis, Osteolysis involving bones of the feet, Splenome... OMIM:228000
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Splenomegaly, Hepatomegaly, Anemia, Hyperparathyroidism OMIM:618107
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Abnormal circulating lipid concentration, Hyperthyroidism, Central adrenal insuff... ORPHA:488632
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hyperhomocystinemia, Hypoglycemia, Megaloblastic anemia, Methylmalonic ac... ORPHA:79282
Aromatase Deficiency
Hepatic steatosis, Osteopenia, Insulin resistance, Hyperlipidemia, Obesity, Osteoporosis, Eunucho... ORPHA:91
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Failure ... OMIM:241530
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Neoplasm of the liver, Abnormality of the peri... ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Hypertrophic cardiomyopathy, Failure to thrive, Hypoalbumi... OMIM:618329
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Sialidosis Type 2
Flexion contracture, Abnormality of bone marrow cell morphology, Osteoporosis, Splenomegaly, Hepa... ORPHA:87876
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Loss of truncal subcutane... OMIM:151660
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Fever, Lymphadenopathy, Osteolysis, Weig... ORPHA:391
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Thick corpus callosum, Megalencephaly, Hypoplasia of the corpus... OMIM:603387
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Portal hypertension, Cirrhosis, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jau... ORPHA:1414
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Hypoplastic left heart, Abnormality of neuronal migration, Ventricular septal defect ORPHA:2772
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Aredyld Syndrome
Craniofacial hyperostosis, Splenomegaly, Lipoatrophy, Hepatomegaly, Abnormal dental enamel morpho... ORPHA:1133
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Inc... ORPHA:769
Marbach-Rustad Progeroid Syndrome
Reduced bone mineral density, Ventricular septal hypertrophy, Insulin resistance, Reduced subcuta... OMIM:619322
Congenital Hypothyroidism
Hypothyroidism, Abnormal pericardium morphology, Abnormality of the thyroid gland, Thyroid dysgen... ORPHA:442
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Pancreatitis, Lymphopen... ORPHA:99826
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Polymicrogyria, Megalencephaly, Ventricular septal defect OMIM:602501
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Fever, Enlarged me... OMIM:209950
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Felty Syndrome
Abnormal lymphocyte morphology, Cellulitis, Weight loss, Bone marrow hypocellularity, Limitation ... ORPHA:47612
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Alpha-Mannosidosis
Craniofacial hyperostosis, Splenomegaly, Hepatomegaly, Inguinal hernia, Synostosis of joints, Typ... ORPHA:61
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
46,Xx Sex Reversal 5
Hypoplastic left heart, Ventricular septal defect, Secundum atrial septal defect OMIM:618901
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... ORPHA:417
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Agenesis of ... OMIM:208530
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Increased circulating thyroglobulin level, Decrea... ORPHA:226316
Gorham-Stout Disease
Cortical irregularity, Osteopenia, Lymphangioma, Abnormal bone ossification, Osteomyelitis, Osteo... ORPHA:73
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Delayed puberty, Hypercholest... ORPHA:264580
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus ORPHA:1455
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Abnormality of bone marrow cell morphology, Osteopor... ORPHA:98848
Werner Syndrome
Lipodystrophy, Joint stiffness, Increased bone mineral density, Insulin resistance, Slender build... ORPHA:902
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Hypothyroidism, Insulin resistance, Abnormal circulating lipid concentrat... OMIM:616541
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Retic... OMIM:611490
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Osteopenia, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Fail... OMIM:612714
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial sept... OMIM:108900
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Hadziselimovic Syndrome
Tetralogy of Fallot, Hypoplasia of the corpus callosum, Atrial septal defect, Microcephaly, Ventr... OMIM:612946
Sarcoidosis
Hypothyroidism, Diabetes insipidus, Increased T cell count, Anemia, Bone cyst, Abnormality of the... ORPHA:797
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Abnormality of bone marrow cell morphology, Splenomegaly, Hepatomegaly, Fever, Lymphadenopathy, W... ORPHA:86893
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Inguinal hernia, Abnormal heart morphology, Camptodactyly of toe, Umbilical her... OMIM:175700
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Granulocytopenia, Thrombocytopenia, Normocytic anemia, Thrombocytosis, Erythroid hy... ORPHA:75564
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Thrombocytopenia, Bone marrow hypercellularity, Normocytic anemia, Myeloproliferati... ORPHA:98849
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Fever, Elevated circulating C-reactive protein concentr... ORPHA:1451
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance, Hyperlipidemia, Osteolytic defects of the distal phalang... ORPHA:90153
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Osteopenia, Increased bone mineral density, Leukope... ORPHA:77259
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Abnormal trabecular bone morphology, Splenomegaly, Hepatomegaly, Anemia, O... OMIM:612301
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Adipose t... OMIM:246200
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Osteopenia, Increased hepatic glycogen content, Hepatomegaly, F... ORPHA:2088
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Leukemia, Small for gestational age, Increased s... ORPHA:2909
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Hypocalcemia, Splenomegaly, Hepat... OMIM:259700
Atrial Septal Defect 1
Atrial septal defect, Subvalvular aortic stenosis, Atrial septal dilatation, Ventricular septal d... OMIM:108800
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Basal ... ORPHA:79243
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Hypothermia OMIM:616501
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Fever, Elevated circula... OMIM:616050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Meningococcal Meningitis
Stiff neck, Elevated circulating C-reactive protein concentration, Fever, Hypothermia ORPHA:33475
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Finger joint hypermobility, Obesity, Fever, Hip contracture, Elbow flexion contracture, Abnormali... OMIM:618493
Pachydermoperiostosis
Arthritis, Limitation of joint mobility, Abnormality of bone marrow cell morphology, Osteoporosis... ORPHA:2796
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Occipital Horn Syndrome
Hiatus hernia, Keloids, Osteopenia, Atypical scarring of skin, Cholestasis, Osteoporosis, Femoral... ORPHA:198
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Joint stiffness, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Anemia... OMIM:609069
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Decreased body weight, Atrial septal defect, Double outlet right ventricle, Hyper... OMIM:614886
Neuraminidase Deficiency
Vacuolated lymphocytes, Epiphyseal stippling, Splenomegaly, Hepatomegaly, Inguinal hernia, Bone-m... OMIM:256550
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Leukemia, ... ORPHA:221008
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Femoral hernia, Inguinal hernia ORPHA:2849
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Microcephaly,... ORPHA:261183
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothyroidism, Osteopenia, Patent foramen ovale, Abnormality of the anterior pituitary, Atrial s... ORPHA:438213
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Grange Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:79094
Dent Disease 1
Glycosuria, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed ... OMIM:300009
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Fever, Hyperuricemia, Ele... ORPHA:94093
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Filippi Syndrome
Microcephaly, Ventricular septal defect OMIM:272440
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Placental Insufficiency
Abnormal heart morphology, Hypoxemia, Insulin resistance, Small for gestational age ORPHA:439167
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Anisocytosis, Spleno... OMIM:616860
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Farber Disease
Hepatosplenomegaly, Flexion contracture, Intrahepatic cholestasis with episodic jaundice, Osteopo... ORPHA:333
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Acute pancreatitis, Insulin resistance, Elevated circulating lutei... OMIM:617253
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Osteopo... ORPHA:79240
Cranio-Osteoarthropathy
Osteoarthritis, Joint stiffness, Abnormal cortical bone morphology, Arthritis ORPHA:1525
X-Linked Lissencephaly With Abnormal Genitalia
Agenesis of corpus callosum, Patent ductus arteriosus, Microcephaly, Pachygyria, Ventricular sept... ORPHA:452
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Aplasia of the tarsal bones, Absent metatars... OMIM:200500
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:1486
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Small for gestat... ORPHA:221016
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Atrial septal defect, Microcephaly, Lissencephaly, Ventricular septal d... OMIM:618142
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Flexion contracture, Patent foramen ovale, Hypertrophic cardiomy... ORPHA:17
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Agenesis of corpus callosum, Atrial septal defect, Small cerebral cortex, Microcephaly, Ventricul... OMIM:617360
Hutchinson-Gilford Progeria Syndrome
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Mitral stenosis, Ventricular ... ORPHA:740
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Ventricular septal defect OMIM:613458
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Microcephaly, Tetralogy of Fallot, Cerebral cortical atrophy, Ventricular septal defect ORPHA:1166
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Small for gestational age, Peritonitis, Neutropenia, Abnormal heart m... ORPHA:391673
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Gonadotropin deficiency, Central diabetes insipidus, Abnormality of the hypothalamus-pi... ORPHA:293987
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Pancreatitis, Hepatomegaly, Paraparesis, Anemia, Cardiomyopathy, Macrocytic anemia, T... ORPHA:27
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Generalized osteoporosis, T lymphocytopenia, Hepatic steatosis, Osteopenia, Mu... ORPHA:2959
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Failure to thrive... OMIM:619046
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Tetralogy of Fallot, Patent ductus arteriosus, Pachygyria, Ventricula... ORPHA:2328
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Osteopenia, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepato... OMIM:211600
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Patent ductus arteriosus, Microcephaly, Abnormal heart morphology, Abnormal... ORPHA:500159
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Fibrous Dysplasia Of Bone
Cortical irregularity, Precocious puberty in females, Fibrous dysplasia of the bones, Hypercalcem... ORPHA:249
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Niemann-Pick Disease, Type A
Microcytic anemia, Osteoporosis, Splenomegaly, Hepatomegaly, Failure to thrive, Bone-marrow foam ... OMIM:257200
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Fever, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Failure to thrive, L... OMIM:617514
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short long bone, Flared iliac wing, Short metacarpal, Epiphyseal stippling, A... OMIM:271665
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Stillbirth OMIM:263630
Leigh Syndrome With Leukodystrophy
Focal T2 hyperintense basal ganglia lesion, Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short palm, Short metacarpal, Rhizomelic arm shortening, Cone-shaped epiphysis, Metaphyseal chond... ORPHA:93317
Tarp Syndrome
Cyanosis, Tetralogy of Fallot, Atrial septal defect, Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Microcephaly, Ventricular septal defect, Transposition... ORPHA:1913
Hodgkin Lymphoma
Splenomegaly, Fever, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:98293
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic h... OMIM:602579
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... OMIM:179613
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Increased circulating ferritin concentrati... OMIM:602390
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Patent foramen ovale, Progressive microcephaly, Right ventricular hypertrophy, ... OMIM:614261
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Ventricular septal defect, Th... ORPHA:290
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Secondary microcephaly ORPHA:3369
Gitelman Syndrome
Hypokalemia, Hashimoto thyroiditis, Gout, Iron deficiency anemia, Chondrocalcinosis, Hypomagnesem... ORPHA:358
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Lymphedema, Pericardial effusion, Edema, Facial edema, Pulmonary edema OMIM:617300
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Neutrophilia, Splenomegaly, Hepatomegaly, ... OMIM:612852
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Leprechaunism
Hypokalemia, Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, C... ORPHA:508
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, C... OMIM:601005
Noonan Syndrome 12
Tetralogy of Fallot, Decreased response to growth hormone stimulation test, Ventricular septal de... OMIM:618624
Gaucher Disease, Type Iii
Pancytopenia, Decreased body weight, Spastic paraparesis, Splenomegaly, Hepatomegaly, Thrombocyto... OMIM:231000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Fever, Hemolytic anemia, Thrombocytopenia, Limi... ORPHA:108
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Dent Disease
Glycosuria, Sparse bone trabeculae, Recurrent fractures, Hyperuricosuria, Osteomalacia, Thin bony... ORPHA:1652
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Bloom Syndrome
Insulin resistance, Small for gestational age, Acute myeloid leukemia, Abnormal proportion of CD8... ORPHA:125
Short Syndrome
Lipodystrophy, Small for gestational age, Joint laxity, Lipoatrophy, Insulin-resistant diabetes m... OMIM:269880
Kaposiform Lymphangiomatosis
Fractures of the long bones, Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts,... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy, Recurrent ... OMIM:618852
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Cholestasis, Slender build, Bile duct proliferation, Inguinal hernia,... OMIM:613658
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Failure to ... OMIM:607765
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular epiphyses, Narrow iliac wing, Metaphyseal irregularity, Short femoral neck, Flared meta... OMIM:610442
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Insulin resistance, Abnormal tricuspid valve morphology, Increased... ORPHA:199276
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Microcephaly, Lissencephaly, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Insulin resistance, Elevated circulating growth hormone concentration, Insulin-r... ORPHA:90301
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Atrial septal defect, Biventricula... ORPHA:860
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Pulmonic stenosis, Abnormal heart mo... ORPHA:284169
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Reduc... OMIM:613673
Melnick-Needles Syndrome
Craniofacial hyperostosis, Omphalocele, Osteolytic defects of the phalanges of the hand, Joint hy... ORPHA:2484
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Small for gestational age, Hepatomegaly, Fail... ORPHA:79237
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Splenomegaly, Hepatomegaly, Dense calvaria, Inguinal hernia, Asymmetric septal h... OMIM:252900
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Ascites, Reduced bone mineral density ORPHA:834
Mpi-Cdg
Hypothyroidism, Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, H... ORPHA:79319
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Osteopenia, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypopla... OMIM:610199
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Dextrotransposition of the great arteries, Ventricular... OMIM:618619
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fever, Hepatomegaly, Failure to thrive, Low ... ORPHA:255210
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Truncal obesity, Biliary tract abnormality, Diabetes mellitus, Abdom... OMIM:209900
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Cardiomyopathy, Pancreatitis,... ORPHA:79312
Pfapa Syndrome
Weight loss, Splenomegaly, Hepatomegaly, Lymphadenopathy, Abnormality of temperature regulation, ... ORPHA:42642
Lysosomal Acid Lipase Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Adrenal calcification, Decreased HDL cholesterol concent... OMIM:278000
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteoporosis, Acute promyelocytic leukemia, Hypersplenism, Thrombocytopenia, Decreased HDL choles... ORPHA:77293
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066