banner
Genes Phenotypes Help, News, Blog

Gene: Ncor2 MGI:1337080

Log in to follow

Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
embryonic growth retardation Ncor2em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology 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 5.80×10-06
abnormal tail movements Ncor2Ncor2 HET   Early adult 1.70×10-05
edema Ncor2em1(IMPC)Mbp HOM E15.5 0.00
increased lean body mass Ncor2Ncor2 HOM Early adult 5.12×10-05
abnormal tail movements Ncor2Ncor2 HOM   Early adult 3.46×10-05
abnormal placenta vasculature Ncor2em1(IMPC)Mbp HOM E15.5 0.00
increased startle reflex Ncor2Ncor2 HOM Early adult 1.32×10-11
abnormal blood vessel morphology Ncor2em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Ncor2em1(IMPC)Mbp HOM   Early adult 0.00
increased prepulse inhibition Ncor2Ncor2 HET   Early adult 1.32×10-06
abnormal blood vessel morphology Ncor2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Ncor2em1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Ncor2em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Dorso Ventral

45 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

21 Images

View images
Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View 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
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Type I diabetes mellitus, Myelofibrosis, Autoimmune hemolytic anemia, Lymphade... OMIM:301078
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Abnormal megakaryocyte morphology, Lymphoc... ORPHA:86843
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Essential Thrombocythemia
Increased megakaryocyte count, Myelofibrosis, Abnormal platelet morphology, Acute leukemia, Splen... ORPHA:3318
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... OMIM:231095
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Beta-Thalassemia Intermedia
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... ORPHA:231222
Castleman Disease
Anemia, Restrictive cardiomyopathy, Weight loss, Jaundice, Generalized lymphadenopathy, Myelofibr... ORPHA:160
Myelofibrosis
Fever, Splenomegaly, Myelofibrosis, Myeloproliferative disorder OMIM:254450
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Thrombocytopenia 6
Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis OMIM:616937
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... ORPHA:71526
Dominant Beta-Thalassemia
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Extramedullary hematopoie... ORPHA:231226
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules OMIM:139090
Beta-Thalassemia Major
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... ORPHA:231214
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Hepatosplenomegaly, Eosinophilia, Cervical lymphadenopathy, Myelopro... ORPHA:3260
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Hepatomegaly, Joint stiffness, Abnormal adipose tissue morp... ORPHA:2398
Polycythemia Vera
Weight loss, Myelofibrosis, Hepatomegaly, Portal vein thrombosis, Portal hypertension, Acute leuk... ORPHA:729
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... OMIM:615779
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... ORPHA:280356
Idiopathic Congenital Hypothyroidism
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95717
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteomyelitis, Recurrent fractures, Pancytopenia, Hepatosplenomegaly, Decreased osteoclas... OMIM:259710
Primary Myelofibrosis
Anemia, Abnormal megakaryocyte morphology, Low-grade fever, Cachexia, Pancytopenia, Hepatosplenom... ORPHA:824
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Macrothrombocytopenia, Increased RBC distribution width, Thrombocytopenia, Absence... OMIM:187900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... OMIM:615285
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Increased C-pep... ORPHA:528
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus ORPHA:231736
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Minim... ORPHA:280365
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Increased radioactive iodine uptake, El... ORPHA:95716
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Large for ge... ORPHA:226313
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... ORPHA:79084
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponect... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Increased resting energy expenditure, Attention deficit hyperactivity disorder,... ORPHA:369873
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus, Male hypogonadism, Loss ... OMIM:615381
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... ORPHA:2502
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Abnormal bone structure, Splenomegaly ORPHA:46532
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, A... ORPHA:552
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Joint laxity, Large for gestational age, Myelofibrosis, Atrial septal ... OMIM:607721
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... OMIM:615703
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adipon... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... ORPHA:435651
Proteus Syndrome
Thin bony cortex, Multiple lipomas, Facial hyperostosis, Lymphangioma, Lipoma, Calvarial hyperost... OMIM:176920
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Abnormal serum bile acid concentration, Hyperbilirubinemia, Rickets, Failure to thrive,... ORPHA:79303
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Weight loss, Abnormal B cell count, Osteolysis, Lymphadenopathy, Fever, Hep... ORPHA:100024
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Lymphocytosis, Insulin resistance ORPHA:79087
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced ... OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Agitatio... ORPHA:276580
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... ORPHA:2457
Osteopetrosis, Autosomal Recessive 5
Anemia, Increased bone mineral density, Hyperbilirubinemia, Ascites, Hypocalcemia, Pancytopenia, ... OMIM:259720
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Splenomegaly, Insulin resistance, Elevated circulating cre... OMIM:613327
Blount Disease
Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysis, Tibial bowing ORPHA:2768
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... OMIM:251880
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... OMIM:214150
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Abnormal circulating lipid concentration, Insulin resistance, Unicam... ORPHA:79086
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Agitation, Hyperinsulinemic... ORPHA:276575
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... OMIM:615980
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism OMIM:614962
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neo... ORPHA:73272
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity OMIM:617885
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Pancreatitis, Hepatic steatosis,... ORPHA:79083
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Congenital Enterovirus Infection
Leukopenia, Anemia, Myocarditis, Abnormal macrophage morphology, Pericardial effusion, Hepatitis,... ORPHA:292
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Hypothermia, Osteoporosis OMIM:309400
Ventricular Septal Defect 3
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:614432
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus... ORPHA:2348
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... ORPHA:363400
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline... ORPHA:2298
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Riboflavin Deficiency
Hypothermia, Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... OMIM:613877
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Agitation, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:276608
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperglycemia, Obesity ORPHA:329249
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Hypothermia, Hypertaurinemia, Failure to thrive, Hypoglycemia OMIM:245400
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholangiocarcinoma, He... ORPHA:465508
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... ORPHA:822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free fatty acid level, Vent... ORPHA:26793
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Goiter, Elevated circulating thyroid-stimulating hormone con... ORPHA:90673
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... ORPHA:90674
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hypothermia... ORPHA:159
Fgfr2-Related Bent Bone Dysplasia
Coronal craniosynostosis, Hepatosplenomegaly, Incomplete ossification of pubis, Decreased calvari... ORPHA:313855
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Hyperuricemia, Weight loss, Hypothermia, Nonketotic hypoglycemia, Jaundice, D... ORPHA:20
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Progressive Familial Intrahepatic Cholestasis
Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly, Reduced bone ... ORPHA:172
Primary Erythromelalgia
Hypothermia, Leukemia ORPHA:90026
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Eiken Syndrome
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... ORPHA:79106
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Decreased ... ORPHA:226307
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... OMIM:616033
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Di... ORPHA:276556
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Hypothermia, Insulin resistance, Increased blood urea nitrogen, Hypogly... ORPHA:230
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:615297
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Whipple Disease
Hypothyroidism, Anemia, Arthritis, Cachexia, Insulin resistance, Pericarditis, Fever, Hepatomegal... ORPHA:3452
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... OMIM:300106
Osteopetrosis, Autosomal Recessive 3
Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cr... OMIM:259730
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Small for gestational age, Pericardial effusion, Hypothermia, Elevated... OMIM:618775
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Primary Lipodystrophy
Cirrhosis, Type II diabetes mellitus, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipody... ORPHA:90970
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Lymphadenopathy, Fever, Leukocytosis, Hepatome... ORPHA:37748
Osteogenesis Imperfecta, Type Xxii
Abnormal circulating calcium concentration, Thin bony cortex, Dentinogenesis imperfecta, Recurren... OMIM:619795
Beta-Thalassemia
Abnormality of temperature regulation, Anemia, Abnormality of iron homeostasis, Hepatitis, Hypert... ORPHA:848
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone structure, Abnormal ... ORPHA:83451
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Hypophosphatemia, Sparse bone trabecula... OMIM:264700
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Ck Syndrome
Slender build, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem... OMIM:241530
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Polymicrogyria ORPHA:83473
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Hyperalaninemia, Left ventricular hypertrophy OMIM:614654
Werner Syndrome
Hypogonadism, Thyroid carcinoma, Increased bone mineral density, Type II diabetes mellitus, Insul... ORPHA:902
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic valve steno... OMIM:614980
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Attention deficit hyperactivity disorder, Fasting hyperinsulinemia, Hyperi... ORPHA:35878
Caffey Disease
Cellulitis, Cortical thickening of long bone diaphyses, Cortical irregularity, Fever, Calvarial h... ORPHA:1310
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Hypophosphatemia, Sparse bone trabecula... OMIM:277440
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Infantile Sialic Acid Storage Disease
Failure to thrive, Osteopenia, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splen... OMIM:269920
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Permanent Congenital Hypothyroidism
Hypothyroidism, Hypothermia, Jaundice, Umbilical hernia, Thyroid dysgenesis, Goiter ORPHA:226292
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hemochromatosis, Type 1
Cirrhosis, Increased serum iron, Glucose intolerance, Hepatocellular carcinoma, Diabetes mellitus... OMIM:235200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Failure to th... ORPHA:79301
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Calcinosis, Insulin resistance, Osteolysis, Delayed pu... ORPHA:90154
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Lateral ventricle dilatation OMIM:616816
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Acroosteolysis of distal phalanges (feet), Reduced subcutaneous adipose tiss... OMIM:248370
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Pathologic fracture, Abnormal cortical bone morphology, Limitation of ... ORPHA:166277
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... OMIM:600081
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferritin conce... OMIM:618963
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Hyperglycemia, ... OMIM:608612
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... ORPHA:77297
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Enamel hypoplasia, Increased susceptibility to fractures, Osteomalacia, Hypopho... ORPHA:289157
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Hereditary Sensory And Autonomic Neuropathy Type 2
Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density ORPHA:970
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Menkes Disease
Hernia, Osteomyelitis, Recurrent fractures, Prolonged neonatal jaundice, Hypothermia, Inguinal he... ORPHA:565
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... ORPHA:2635
Alexander Disease
Hypothyroidism, Precocious puberty, Hypothermia, Failure to thrive, Diabetes mellitus, Osteopenia ORPHA:58
Short Syndrome
Small for gestational age, Insulin resistance, Joint laxity, Inguinal hernia, Lipodystrophy, Insu... OMIM:269880
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect OMIM:615996
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypothermia, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Bile ... OMIM:618329
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Abnormal circulating lipid concentration, Decreased response to growth hormone st... ORPHA:488632
Farber Lipogranulomatosis
Osteolytic defects of the phalanges of the hand, Osteolysis involving bones of the feet, Hyperext... OMIM:228000
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... ORPHA:97279
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Lateral ventricle dila... OMIM:618330
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy, Reduced ... OMIM:619322
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Hypothermia, Joint contracture OMIM:614498
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Recurrent hypogl... ORPHA:2126
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Methylmalonic acidemia, Hypothermia, Jaundice, Hyperhomocystinemia, Elevate... ORPHA:79282
Osteopetrosis, Autosomal Dominant 3
Anemia, Recurrent fractures, Hyperparathyroidism, Osteopenia, Hepatomegaly, Splenomegaly OMIM:618107
Osteopetrosis, Autosomal Recessive 8
Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Aromatase Deficiency
Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, He... ORPHA:91
Placental Insufficiency
Small for gestational age, Insulin resistance, Hypoxemia, Abnormal heart morphology ORPHA:439167
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal... OMIM:616276
Classic Hodgkin Lymphoma
Weight loss, Osteolysis, Lymphadenopathy, Fever, Bone marrow hypocellularity, Hepatomegaly, Splen... ORPHA:391
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d... OMIM:151660
Sialidosis Type 2
Flexion contracture, Inguinal hernia, Osteoporosis, Hepatomegaly, Ascites, Splenomegaly, Umbilica... ORPHA:87876
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles... ORPHA:1414
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs ORPHA:882
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... ORPHA:769
Congenital Hypothyroidism
Abnormal pericardium morphology, Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Hypother... ORPHA:442
Aredyld Syndrome
Type II diabetes mellitus, Cachexia, Craniofacial hyperostosis, Type I diabetes mellitus, Hepatom... ORPHA:1133
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... OMIM:250220
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Marburg Hemorrhagic Fever
Hypothermia, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, H... ORPHA:99826
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Fever, Thrombocytosis, Leukocytosis, Sa... OMIM:209950
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity ORPHA:791
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing OMIM:166740
Felty Syndrome
Anemia, Weight loss, Cellulitis, Arthritis, Synovitis, Limitation of joint mobility, Pericarditis... ORPHA:47612
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... OMIM:602111
Alpha-Mannosidosis
Arthritis, Type II diabetes mellitus, Craniofacial hyperostosis, Synostosis of joints, Inguinal h... ORPHA:61
Sarcoidosis
Abnormal lymph node morphology, Hypothyroidism, Hypothermia, Scarring, Increased T cell count, Eo... ORPHA:797
Gorham-Stout Disease
Abnormal bone ossification, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteoly... ORPHA:73
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Goiter, Elevated circulating thyroid-st... ORPHA:226316
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Anemia, Abnormal circulating lipid concentration, Insulin resistance, Dilated car... OMIM:616541
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Hypothermia, Left ventricular noncompaction OMIM:616501
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Abnormal heart morphology, ... OMIM:175700
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Fever, H... OMIM:300635
Indolent Systemic Mastocytosis
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... ORPHA:98848
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cardiomyopathy, Splenomegaly, Anemia, Hepatic fibrosis, Cirrhosis, Abnormal... ORPHA:264580
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... OMIM:208530
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Acroosteolysis of distal phalanges (feet), Insulin resistance, Limitation of... ORPHA:90153
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Throm... OMIM:611490
Rothmund-Thomson Syndrome
Increased susceptibility to fractures, Anemia, Calcinosis, Abnormal trabecular bone morphology, S... ORPHA:2909
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Bone marrow hypocellularity, Hepatomegaly, Hypochromic anemia, Thrombocyt... ORPHA:75564
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Jaundice, Failure to thrive, Osteopenia, Hepatomegaly, Calvari... OMIM:612714
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Periventricular hetero... OMIM:618974
Seckel Syndrome 10
Ventricular hypertrophy, Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic stea... OMIM:617253
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Postprandial hypergl... OMIM:246200
Osteopetrosis, Autosomal Recessive 7
Anemia, Abnormal trabecular bone morphology, Hepatomegaly, Hypocalcemic seizures, Osteopetrosis, ... OMIM:612301
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Pericardial effusion, Increased bone mineral density, Hypersplenis... ORPHA:77259
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Fever, Elev... ORPHA:1451
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Increased circulating... OMIM:616050
Occipital Horn Syndrome
Osteomalacia, Keloids, Hepatitis, Jaundice, Scarring, Hypothermia, Synostosis of joints, Rickets,... ORPHA:198
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Chronic myelomonocytic leukemia, Eosinophilia, Myeloproliferative disorde... ORPHA:98849
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Short Syndrome
Weight loss, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes mellitus, Joint hyperfl... ORPHA:3163
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Failure to thrive, Osteoporosis, Lymphadenopathy, Bone-marrow foam cells,... OMIM:257200
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Hypocalcemia, Pa... OMIM:259700
Delpire-Mcneill Syndrome
Ventricular septal defect, Agenesis of corpus callosum OMIM:619083
Meningococcal Meningitis
Hypothermia, Stiff neck, Fever, Elevated circulating C-reactive protein concentration ORPHA:33475
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Anemia, Hypogonadism, Calcinosis, Abnormal trabecular bone morphology, Small for ... ORPHA:221008
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Pachydermoperiostosis
Anemia, Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Limitation of joint mobility... ORPHA:2796
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... OMIM:262190
Perlman Syndrome
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Abnormal pancreas morphology, Femoral hernia ORPHA:2849
Neuraminidase Deficiency
Epiphyseal stippling, Inguinal hernia, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascite... OMIM:256550
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Patent foramen ovale, Anemia, Precocious puberty, Increase... ORPHA:438213
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Hepa... ORPHA:2088
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Increased serum iron, Hypogonadism, Elevated transferrin sat... OMIM:613313
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Arthritis, Generalized lymphadenopathy, Autoimmune thrombocytopenia, Hepa... OMIM:615559
Farber Disease
Anemia, Flexion contracture, Hepatic fibrosis, Arthritis, Paraparesis, Hepatosplenomegaly, Failur... ORPHA:333
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmune hemolytic anemi... ORPHA:100026
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:261243
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Dent Disease 1
Thin bony cortex, Recurrent fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Sparse bone tr... OMIM:300009
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete... OMIM:613854
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypothermia, Hypocalcemia, Hyperkalemia, Elevated circulating c... ORPHA:94093
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hip contracture, Finger joint hypermobility, Hypothermia, ... OMIM:618493
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly... OMIM:616860
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Abnormality of neuronal migration, Ventricular septal defect ORPHA:2772
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Fever, Eosinophilia, Hepatomegaly, Impair... OMIM:226990
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent foramen ovale, Flexion contracture, Methylmalonic acidemia, Hypothermia, Hepatic steatosis... ORPHA:17
Leishmaniasis
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, H... ORPHA:507
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... OMIM:300554
Rothmund-Thomson Syndrome Type 2
Anemia, Calcinosis, Abnormal trabecular bone morphology, Small for gestational age, Finger sympha... ORPHA:221016
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Failure to thrive in infancy, Splenomegaly, Reduced bone mineral density ORPHA:834
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Paraparesis, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Thrombocytopeni... ORPHA:27
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility ORPHA:1486
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Decreased body weight, Hyperbilirubinemia, Abnormal cortical bone ... OMIM:614886
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A... OMIM:618858
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic right heart, Atrial septal defec... OMIM:618142
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Cranio-Osteoarthropathy
Arthritis, Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis ORPHA:1525
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Anemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, He... ORPHA:79240
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Sea-blue histiocytosis, Failure to thrive, Hepatomegaly, Joint stiffness, Splen... OMIM:230600
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Small for gestational age, Peritonitis, Temperature instability, Ab... ORPHA:391673
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, T lymphocytopenia, Decreased serum estradiol, Small for gestational ... ORPHA:2959
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:606176
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Ventricular hypertrophy, Pubertal developmental failure in females, Progressive clavicu... ORPHA:740
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... OMIM:617300
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia, Abnormality of iron homeostasis, Glucose intolerance ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Rickets, Failure to thrive, Osteopenia, Hepatomegaly, Cholelithiasis, Intrah... OMIM:211600
Tarp Syndrome
Cyanosis, Atrial septal defect, Failure to thrive, Extramedullary hematopoiesis, Tetralogy of Fallot ORPHA:2886
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Neonatal hypoglycemia, Failure to thrive, Increased serum pyruvate, Macrocytic a... OMIM:619046
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Kapur-Toriello Syndrome
Patent ductus arteriosus, Ventricular septal defect, Dysplastic corpus callosum, Pachygyria, Tetr... ORPHA:2328
Orthostatic Hypotension 1
Intermittent hypothermia, Reduced circulating prolactin concentration, Neonatal hypoglycemia, Joi... OMIM:223360
Fibrous Dysplasia Of Bone
Precocious puberty in females, Thin bony cortex, Hyperthyroidism, Increased circulating cortisol ... ORPHA:249
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Caffey Disease
Joint hypermobility, Cortical irregularity, Fever, Subperiosteal bone formation, Calvarial hypero... OMIM:114000
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... OMIM:120200
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... OMIM:271500
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Pachygyria, Ventricular septal defect, Agenesis of corpus callosum ORPHA:452
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Periostitis, Osteopenia, Hepat... OMIM:612852
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin def... ORPHA:293987
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Sagittal craniosynostosis, Hepatic fibrosis, Pancreatic hypoplasia, Elevated ci... OMIM:610199
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De... OMIM:613751
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Ascites, Paraparesis, Jaundice, Pa... ORPHA:79124
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Immunodeficiency 31C
Hypothyroidism, Osteomyelitis, Weight loss, Lymphopenia, Impaired lymphocyte transformation with ... OMIM:614162
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Gitelman Syndrome
Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Chondrocalci... ORPHA:358
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Stillbirth OMIM:263630
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Enlarged ova... ORPHA:508
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect OMIM:612946
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... ORPHA:79237
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Osteomalacia, Abnormal trabecular bone morphology, I... ORPHA:289176
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Unconjugated hyperbilirubinemia, Hepatic steatosis, Hypoglycemia, Slender build... OMIM:613658
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... OMIM:601005
Bloom Syndrome
Acute myeloid leukemia, Small for gestational age, Abnormal proportion of CD8-positive T cells, I... ORPHA:125
Silver-Russell Syndrome
Precocious puberty, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thr... ORPHA:813
Dent Disease
Thin bony cortex, Recurrent fractures, Osteomalacia, Glycosuria, Sparse bone trabeculae, Elevated... ORPHA:1652
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Failur... OMIM:603553
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cardiac septum morphology, Craniofacial... ORPHA:2484
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... ORPHA:79319
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Rickets, Failure to thrive, Giant ... OMIM:607765
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... ORPHA:464329
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Polymicrogyria OMIM:602501
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:90301
Spondylometaphyseal Dysplasia, Sedaghatian Type
Iliac crest serration, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, Short palm, C... ORPHA:93317
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Paraparesis, Osteolysis, Osteosclerosis of the ulna, Hyper... OMIM:602080
Familial Multiple Lipomatosis
Increased adipose tissue, Insulin resistance, Lipodystrophy, Hyperlipidemia, Abnormal tricuspid v... ORPHA:199276
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophi... OMIM:613673
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Anemia, Flexion contracture, Reduced subcutaneous adipose tissue, Secundum... OMIM:609069
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Fever, Pann... OMIM:618398
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... OMIM:278000
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... ORPHA:860
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Ventricular septal defect, Lateral ventricle dilatation, Bicuspid aorti... OMIM:617751
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Dense calvaria, Inguinal hernia, Hepatomegaly, Joint stiffness, Sp... OMIM:252900
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Arthritis, Neutrophilia, Generalized lymphad... ORPHA:829
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Juvenile rheumatoid arthritis, ... ORPHA:158061
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ventricular sept... ORPHA:3092
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Neoplasm of the liver, Hepatomegaly, Hyperlipidemia, Th... ORPHA:77293
Monosomy 13Q34
Common atrium, Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity, Pulmonic stenosis ORPHA:96168
Mitochondrial Dna-Associated Leigh Syndrome
Hyperalaninemia, Hypothermia, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopa... ORPHA:255210
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Decreased body weight, Increased bone mineral de... ORPHA:79474
Wolman Disease
Anemia, Adrenal insufficiency, Cachexia, Fever, Bone-marrow foam cells, Hepatomegaly, Ascites, Ad... ORPHA:75233
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... OMIM:615363
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... OMIM:271665
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... OMIM:610442
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:401935
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Abnormal erythrocyte enzyme level, Hepatocellu... ORPHA:370
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Increased circulating T4 concentr... ORPHA:525731
Primary Sclerosing Cholangitis
Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hep... ORPHA:171
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Fever, Bone marrow hypocellularity, Leuk... ORPHA:3226
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Agenesis of corpus callosum ORPHA:93267
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Arthritis, Type I diabetes mellitus, Pancytopenia, Hepatosplenomegaly, Lympho... OMIM:615688
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Lateral ventricle dilatation, Partial agenesis of the corpus callosum,... ORPHA:79243
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Tyrosinemia, Type I
Hypermethioninemia, Anemia, Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Elevated circul... OMIM:276700
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Gaucher Disease
Increased bone mineral density, Osteolysis, Hepatomegaly, Aortic valve calcification, Thrombocyto... ORPHA:355
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypotherm... OMIM:218700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Ethylene Glycol Poisoning
Cyanosis, Hypothermia, Hypocalcemia, Hyperkalemia ORPHA:31826
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Arthritis, Pericarditis, Osteolysis, Lymphadenopathy, Fever, Hepato... ORPHA:809
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Oculodentodigital Dysplasia
Camptodactyly of finger, Ventricular septal defect, Abnormal cortical bone morphology, Spastic pa... ORPHA:2710