Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Gnas MGI:95777

Gene Summary

Name:

GNAS complex locus

Synonyms:

Gsa, SCG6, Gnas1, Nespl, P1, Nesp, Gs alpha, neuroendocrine-specific Golgi protein p55 isoform 1, Oedsml, G alpha s, Gnasxl, Galphas, P2, Gs-alpha, XLalphas, Nesp55, P3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
increased heart weight	Gnas^tm1Jop	HOM	Early adult	3.55×10^-10
increased lean body mass	Gnas^tm1Jop	HOM	Early adult	7.39×10^-05
increased startle reflex	Gnas^tm1Jop	HOM	Early adult	6.97×10^-07

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.

Phenotype associated images not available

Human diseases caused by Gnas 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.

Human diseases associated with Gnas (15 diseases)
Human diseases predicted to be associated with Gnas (1626 diseases)

The table below shows human diseases associated to Gnas by orthology or direct annotation.

Disease	Matching phenotypes	Source
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:603233
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ...	ORPHA:79445
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate...	OMIM:612462
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo...	OMIM:103580
Pseudohypoparathyroidism Type 1B	Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype...	ORPHA:94089
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Mccune-Albright Syndrome	Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali...	ORPHA:562
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Limitation of joint mobility, Osteoarthritis, Ectopic ossif...	ORPHA:2762
Mazabraud Syndrome	Fibrous dysplasia of the bones, Recurrent fractures	ORPHA:57782
Mccune-Albright Syndrome	Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm...	OMIM:174800

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

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion	OMIM:619462
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Bulimia Nervosa, Susceptibility To	Bulimia	OMIM:607499
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology	ORPHA:2398
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Schizophrenia 15	Hyperactivity	OMIM:613950
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:603233
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu...	OMIM:612526
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl...	OMIM:240900
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin...	ORPHA:79085
Fetal Parvovirus Syndrome	Increased nuchal translucency, Ascites, Hydrops fetalis	ORPHA:295
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Lipedema	Lipedema, Edema	OMIM:614103
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip...	ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Blue Diaper Syndrome	Decreased circulating T4 concentration, Hyperphosphatemia, Elevated circulating thyroid-stimulati...	ORPHA:94086
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia	ORPHA:329249
Vitamin D-Dependent Rickets, Type 3	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti...	OMIM:615238
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ...	ORPHA:79445
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Ethanolaminosis	Cardiomegaly	OMIM:227150
Indomethacin Embryofetopathy	Ventricular septal defect, Premature birth, Hydrops fetalis, Respiratory insufficiency, Cardiomyo...	ORPHA:1909
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Abnormality of body weight, Hypoglyc...	ORPHA:314811
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Achondrogenesis, Type Ib	Inguinal hernia, Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Respiratory insuffi...	OMIM:600972
Developmental And Epileptic Encephalopathy 96	Neonatal respiratory distress, Small for gestational age, Hydrops fetalis	OMIM:619340
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis	OMIM:276822
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate...	OMIM:612462
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypogl...	ORPHA:276580
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid...	OMIM:619598
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy	ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De...	ORPHA:276575
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hyper...	OMIM:617994
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium, Growth de...	ORPHA:2414
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Obesity	OMIM:300803
Congenital Generalized Lipodystrophy	Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrophy, Adipose ti...	ORPHA:528
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia, Dehydration	OMIM:601410
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Short stature, Polyhydramnios, Respiratory insufficiency due to muscle weak...	OMIM:300580
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ...	ORPHA:314802
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic...	ORPHA:36913
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Muscular Hypertonia, Lethal	Respiratory distress, Decreased fetal movement, Umbilical hernia, Pneumonia	OMIM:254120
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Obesity	OMIM:620195
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro...	OMIM:615381
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia...	OMIM:620270
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A...	OMIM:300148
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Prematur...	ORPHA:70589
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary arterial hype...	OMIM:619003
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia	ORPHA:436182
Hypotonia-Cystinuria Syndrome	Failure to thrive, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes...	OMIM:606407
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth	OMIM:215045
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy...	ORPHA:35878
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Alpha-Heavy Chain Disease	Ascites, Hypocalcemia	ORPHA:100025
Mahvash Disease	Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia	OMIM:619290
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypog...	ORPHA:163693
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Sialidosis Type 2	Inguinal hernia, Short stature, Dyspnea, Flexion contracture, Hydrops fetalis, Pedal edema, Umbil...	ORPHA:87876
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Neutral Lipid Storage Disease With Myopathy	Diabetes mellitus, Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:610717
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Large for gestational age, Tachypnea, Hydrops fetalis, Fetal distress	ORPHA:45452
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypoglycemic seizure...	ORPHA:276556
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow	OMIM:309585
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo...	OMIM:103580
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Phenylketonuria	Aminoaciduria	ORPHA:716
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R...	OMIM:262400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Hypertriglyceride...	ORPHA:2348
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Congenital Disorder Of Glycosylation, Type Ik	Nonimmune hydrops fetalis, Flexion contracture, Cardiomyopathy, Abnormality of the amniotic fluid...	OMIM:608540
Narcolepsy Type 1	Obesity	ORPHA:2073
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth	ORPHA:199276
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hydrops fetalis, Polyhydramnios	ORPHA:2204
Familial Isolated Hyperparathyroidism	Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop...	ORPHA:99879
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipoatroph...	ORPHA:79083
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postnatal gro...	ORPHA:453533
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Elevated circulating th...	OMIM:618183
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Dehydrat...	ORPHA:69076
Edema, Familial Idiopathic, Prepubertal	Diabetes mellitus, Edema	OMIM:129840
Congenital Heart Block	Premature birth, Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth...	ORPHA:60041
Hydrops Fetalis	Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff...	ORPHA:1041
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Edema, Tremor, Flexion contracture, Renal cyst, Dysmetria, Hypoalbu...	OMIM:212065
Infantile Sialic Acid Storage Disease	Failure to thrive, Fair hair, Premature birth, Cardiomegaly, Hydrops fetalis, Ascites	OMIM:269920
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Pulmonary arterial hypertension, Stillbirth, Camptodactyly, Neonata...	OMIM:619751
Pseudohypoparathyroidism Type 1B	Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype...	ORPHA:94089
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Lymphedema, Mitral valve prolapse, Hypocalcemia, Hypothyroidism	ORPHA:1563
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho...	OMIM:612089
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hydrops fetalis	OMIM:619433
Diffuse Neonatal Hemangiomatosis	Ascites, Premature birth, Hydrops fetalis, Polyhydramnios	ORPHA:2123
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur...	OMIM:616733
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Obesity	ORPHA:85274
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Summitt Syndrome	Obesity	OMIM:272350
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Short stature, Small hand, Obesity, Short foot, Abnormal ulnar met...	ORPHA:177910
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Calciphylaxis	Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Hydrops fetalis, Polyhydramnios	ORPHA:3405
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Short stature, Maternal diabetes, Micrognathia, Coxa vara, Abnormal...	ORPHA:1988
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Glycogen Storage Disease Iv	Decreased fetal movement, Failure to thrive, Polyhydramnios, Edema, Hydrops fetalis, Cardiomyopat...	OMIM:232500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo...	ORPHA:2238
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Premature birth, Edema, Dyspnea, Tachypnea, ...	OMIM:267450
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ...	ORPHA:79086
Adamantinoma	Hypercalcemia	ORPHA:55881
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature	ORPHA:2849
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly, Polyph...	OMIM:617119
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Short stature, Fle...	OMIM:615547
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertroph...	OMIM:618815
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	ORPHA:280365
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Transaldolase Deficiency	Edema, Abnormal respiratory system physiology, Hydrops fetalis, Biventricular hypertrophy, Atrial...	ORPHA:101028
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im...	OMIM:248370
Intellectual Developmental Disorder, X-Linked 91	Obesity, Low posterior hairline	OMIM:300577
Mulibrey Nanism	Short stature, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Growth delay, Pericardial cons...	OMIM:253250
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Long Qt Syndrome 3	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:603830
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i...	OMIM:246200
Leptin Deficiency Or Dysfunction	Polyphagia, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ...	ORPHA:157941
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Increas...	ORPHA:157215
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Edema, Facial edema, Hyperlipidemia, Obesity, Pedal ede...	ORPHA:86816
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre...	ORPHA:263455
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Femoral hernia, Polyhydramnios, Disproportionat...	ORPHA:93298
Achondrogenesis	Thickened nuchal skin fold, Inguinal hernia, Severe short stature, Polyhydramnios, Hydrops fetali...	ORPHA:932
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Short stature, Postnatal growth retardation, Thyroiditis, Weight loss,...	OMIM:212750
Hyperparathyroidism 4	Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Hb Bart'S Hydrops Fetalis	Hydrops fetalis, Polyhydramnios, Oligohydramnios	ORPHA:163596
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Obesity, Spastic diplegia, Protr...	ORPHA:480907
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent otitis media, Short stature, Obesity	OMIM:615993
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Dystonia 31	Generalized dystonia, Parkinsonism, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten...	OMIM:601005
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub...	ORPHA:358
Congenital Enterovirus Infection	Respiratory distress, Decreased fetal movement, Premature birth, Skin rash, Fetal ascites, Polyhy...	ORPHA:292
Combined Oxidative Phosphorylation Deficiency 57	Apnea, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Central hypovent...	OMIM:620167
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Micrognathia, Multiple pren...	OMIM:616897
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Lipoatrophy, Sparse hair, Intrauterine growth retardation, Failure to thriv...	ORPHA:261304
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia	OMIM:245590
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, A...	ORPHA:3055
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injuri...	OMIM:613670
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Neurogenic bladder, Abetalipoproteinemia, Elevated circulating crea...	ORPHA:96180
Galactokinase Deficiency	Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increa...	ORPHA:79237
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion, Asc...	ORPHA:90362
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Decreased fetal movement, Hip contracture, Ankle flexion contracture, Respi...	ORPHA:1143
Mehmo Syndrome	Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Growth delay, Large earlobe, Hyp...	ORPHA:85282
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Decreased fetal movement, Camptodactyly of finger, Respiratory insufficienc...	OMIM:614399
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Short Syndrome	Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul...	OMIM:269880
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema...	ORPHA:69735
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Tremor, Flexion contracture, Choreoathetosis, Male hypogonadism, Wrist flexion contracture, Ataxi...	OMIM:300055
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, De...	OMIM:214150
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Short stature, Inability to walk,...	OMIM:616756
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Renal insufficiency, Ataxia, Short statur...	ORPHA:2377
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura...	ORPHA:50251
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Meconium Aspiration Syndrome	Respiratory distress, Fetal distress, Neonatal asphyxia, Wheezing, Pneumothorax, Postterm pregnan...	ORPHA:70588
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp...	OMIM:612447
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Neuraminidase Deficiency	Inguinal hernia, Short stature, Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopathy, Ascites	OMIM:256550
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Achondrogenesis Type 1A	Thickened nuchal skin fold, Severe short stature, Femoral hernia, Polyhydramnios, Hydrops fetalis...	ORPHA:93299
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Decr...	OMIM:608594
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Fetal Gaucher Disease	Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Stillbirth, Neonatal death	ORPHA:85212
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Growth delay, Elevated circulating parathyroid hormone level, Hypocalc...	OMIM:264700
Silver-Russell Syndrome Due To 11P15 Microduplication	Decreased fetal movement, Short stature, Small for gestational age, Postnatal growth retardation,...	ORPHA:231144
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Gcgr-Related Hyperglucagonemia	Diabetes mellitus, Increased glucagon level, Glucagonoma	ORPHA:438274
Hypercalcemia, Infantile, 1	Hypercalcemia, Decreased circulating parathyroid hormone level, Dehydration	OMIM:143880
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis	OMIM:153100
11P15.4 Microduplication Syndrome	Synophrys, Obesity, Highly arched eyebrow	ORPHA:300305
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi...	ORPHA:276435
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Sanjad-Sakati Syndrome	Congenital hypoparathyroidism, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Polyhydramnios, Increased connective tissue, Hydrops fetalis, Respirato...	OMIM:255320
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ...	ORPHA:699
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Weight loss, Growth delay, Keratoconjunctiviti...	ORPHA:79242
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Small for gestational age...	OMIM:617021
48,Xxyy Syndrome	Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp...	ORPHA:10
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Klippel-Trénaunay Syndrome	Edema, Pulmonary embolism, Hydrops fetalis, Respiratory insufficiency, Abnormal tricuspid valve m...	ORPHA:90308
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Failure to thrive, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesi...	ORPHA:367
Colchicine Poisoning	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypok...	ORPHA:31824
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary growth hormone cell adenoma, Pit...	ORPHA:913
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Abnormal repe...	OMIM:610883
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Alg8-Cdg	Failure to thrive, Premature birth, Abnormality of subcutaneous fat tissue, Edema, Small for gest...	ORPHA:79325
Congenital Disorder Of Glycosylation, Type Ig	Abnormal pinna morphology, Small for gestational age, Hypospadias, Hypoglycemia, Edema, Cryptorch...	OMIM:607143
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Short stature, Nephrolithiasis, Abnormal adipose tissue morphology, Hypocalc...	ORPHA:93160
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Intrauterine growth retardation, Failure to thrive, Cardiomyopathy	ORPHA:26792
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Ataxia, Urinary incontinence, Impaired distal vibration sensation, Impaire...	OMIM:604360
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in...	ORPHA:264675
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin ...	OMIM:613327
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Boomerang Dysplasia	Omphalocele, Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios	ORPHA:1263
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency, Increased connective tissue	ORPHA:238329
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c...	OMIM:269700
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology, Short stature	ORPHA:2374
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H...	ORPHA:93333
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age	ORPHA:439167
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
14Q11.2 Microduplication Syndrome	Aggressive behavior, Micrognathia, Hypothyroidism, Obesity, Attention deficit hyperactivity disor...	ORPHA:261229
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Abnormal pinna morphology, Hypospadia...	ORPHA:79324
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Methylmalonic aciduri...	OMIM:614857
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Rafiq Syndrome	Ataxia, Short stature, Aggressive behavior, Flexion contracture, Obesity, Truncal obesity, Cerebe...	OMIM:614202
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Sparse body hair	ORPHA:261483
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia, Intention ...	OMIM:610539
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Postnatal growth retardation, Generalized aminoaciduria, Elevated circulating para...	ORPHA:289157
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:1832
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dehydration, Hype...	ORPHA:94093
2Q23.1 Microdeletion Syndrome	Hyperactivity, Sandal gap, Short stature, Abnormal repetitive mannerisms, Growth delay, Self-inju...	ORPHA:228402
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:91130
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Obesity, Bilateral talipes equinovarus, Polyphagia, Self-mutilation	OMIM:616521
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Short stature, Absent puberta...	ORPHA:464282
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed...	ORPHA:100057
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left he...	ORPHA:3426
X-Linked Agammaglobulinemia	Short stature, Thrombocytopenia, Sensorineural hearing impairment, Neutropenia, Weight loss, Hypo...	ORPHA:47
Perching Syndrome	Respiratory distress, Joint contracture, Camptodactyly	OMIM:617055
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Abnormal circulating lipid concentration, Type II diabetes mellitus, Obesity	ORPHA:3191
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Cardiomyopathy, Familial Hypertrophic, 27	Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept...	OMIM:618052
Mpi-Cdg	Edema, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypothyroidism	ORPHA:79319
Cystinosis	Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I diabetes m...	ORPHA:213
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, L...	ORPHA:1438
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, H...	ORPHA:73224
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci...	ORPHA:769
Squalene Synthase Deficiency	Failure to thrive in infancy, Posteriorly rotated ears, Hypospadias, Increased circulating farnes...	OMIM:618156
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Renal agenesis, Short stature, Cryptorchidism, Splenome...	OMIM:618440
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl...	OMIM:615986
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Short femur, Rhizomelia, Bowing of the long bones, Mic...	OMIM:613848
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Hyperp...	OMIM:101800
Gaucher Disease, Perinatal Lethal	Respiratory distress, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyh...	OMIM:608013
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
X-Linked Centronuclear Myopathy	Respiratory distress, Decreased fetal movement, Respiratory failure requiring assisted ventilatio...	ORPHA:596
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Chronic otitis media, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Achondroplasia	Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,...	OMIM:100800
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial sep...	OMIM:601927
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, Sensorineural...	OMIM:619737
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis...	OMIM:261600
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Congenital hypoparathyroidism, Abn...	ORPHA:93325
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Oculoskeletodental Syndrome	Short stature, Hypercalcemia, Sensorineural hearing impairment, Nephrocalcinosis, Hypocalcemia, C...	ORPHA:557003
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Growth delay, Hypertrophi...	OMIM:613561
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Tip-toe gait, Hypocalcemia, Leth...	ORPHA:746
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Edema, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, ...	OMIM:617575
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond...	ORPHA:423
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Re...	OMIM:609015
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Decreased circulating parat...	OMIM:241530
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
6Q16 Microdeletion Syndrome	Tapered finger, Micrognathia, Obesity, Abnormal temper tantrums, Long foot, Polyphagia	ORPHA:171829
Juvenile Nephropathic Cystinosis	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri...	ORPHA:411634
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm...	ORPHA:98818
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating parath...	OMIM:307800
Baralle-Macken Syndrome	Striae distensae, Obesity, Hirsutism	OMIM:619255
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Xerostomia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Hypocalcemia, As...	OMIM:235255
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoproteinemia, Ventricular septal defect, Elevated circulating creatine kinase concentration, I...	ORPHA:26793
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Gm1 Gangliosidosis	Inguinal hernia, Short stature, Ventricular septal defect, Premature birth, Camptodactyly of fing...	ORPHA:354
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Self-mutilation, Unsteady gait, Dysmetria, Protruding ear, H...	ORPHA:3041
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Dysmetria, Micropenis, Hypothyroidism, Ataxia, Short stature, Cryptorchidism, Ins...	OMIM:616541
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Short stature, Severe shor...	OMIM:270450
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Thymic Neuroendocrine Tumor	Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus...	ORPHA:97289
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhyd...	OMIM:616843
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Achondrogenesis, Type Ii	Polyhydramnios, Edema, Disproportionate short-trunk short stature, Hydrops fetalis, Stillbirth, D...	OMIM:200610
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypophosphatemia, Fasting hy...	ORPHA:2088
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia	OMIM:244460
Alpha-Thalassemia	Hydrops fetalis	ORPHA:846
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough	ORPHA:77260
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Elevated circulating lute...	OMIM:617253
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Large for gesta...	ORPHA:363705
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc...	ORPHA:90301
Combined Oxidative Phosphorylation Deficiency 42	Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r...	OMIM:618839
Werner Syndrome	Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes...	ORPHA:902
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cram...	OMIM:128100
Combined Oxidative Phosphorylation Deficiency 40	Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype...	OMIM:618835
Hypotonia-Cystinuria Syndrome	Growth delay, Failure to thrive, Polyphagia	ORPHA:163690
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:613388
Free Sialic Acid Storage Disease	Ascites, Failure to thrive in infancy, Hydrops fetalis	ORPHA:834
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Analbuminemia	Lipodystrophy, Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol c...	OMIM:616000
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	OMIM:239200
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Foot oligodactyly, Amelia	OMIM:601357
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture, Hydrops fetalis, Growth delay, Cardiomyopathy, Respiratory failure, ...	ORPHA:88618
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Abnormal pinna morphology, Hypospadias, Short stature, Aggressive behavior, Tremor...	OMIM:300354
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Failure to thrive, Respiratory distress	OMIM:616974
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Mucopolysaccharidosis, Type Vii	Severe short stature, Short stature, Abnormal heart valve morphology, Postnatal growth retardatio...	OMIM:253220
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia, Edema	OMIM:603552
Hypertriglyceridemia, Transient Infantile	Failure to thrive, Hypertriglyceridemia	OMIM:614480
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Spastic tetraparesis, Cryptorchidism, Obesity, Renal hypoplasia, Mic...	ORPHA:171839
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert...	ORPHA:96184
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone deficiency, ...	ORPHA:398079
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Aggressive behavior	ORPHA:2382
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Obesity, Increa...	ORPHA:412
Microtriplication 11Q24.1	Attached earlobe, Speech apraxia, Posteriorly rotated ears, Short stature, Hyperlipidemia, Obesit...	ORPHA:289522
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Broad-based gait, Short stature, Parkinsonism, Anorexia, Ag...	ORPHA:3077
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Gm1-Gangliosidosis, Type I	Inguinal hernia, Severe short stature, Abnormal heart valve morphology, Dilated cardiomyopathy, H...	OMIM:230500
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum...	ORPHA:37042
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia	ORPHA:2668
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c...	OMIM:606763
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis	OMIM:618398
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow	ORPHA:2429
Borjeson-Forssman-Lehmann Syndrome	Short stature, Cryptorchidism, Obesity, Delayed puberty, Micropenis, Macrotia	OMIM:301900
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pedal edema, Hypoalbuminemia...	ORPHA:247353
Lethal Recessive Chondrodysplasia	Respiratory distress, Polyhydramnios, Edema	ORPHA:1423
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit...	ORPHA:90117
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Flexion contracture, Hydrops fetalis, Respiratory insufficiency, Abnormal h...	ORPHA:1865
Congenital Disorder Of Glycosylation, Type Ib	Edema, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Edema, Pituitary adenoma, Increased circulating ACTH level, Obesity, ...	OMIM:219090
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Mohr-Tranebjaerg Syndrome	Dystonia, Tremor, Postlingual sensorineural hearing impairment, Spasticity, Dysphagia, Progressiv...	OMIM:304700
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinsk...	ORPHA:521406
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid...	OMIM:277440
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Spastic tetraplegia, Chiari type I malformation, Inappropriate laughter, Hypoca...	OMIM:618476
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypophosphatemia	OMIM:616026
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Obesity, Low posterior hairline	ORPHA:2233
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Increased body weight, Compulsive behaviors, Hypothalamic lutein...	ORPHA:398069
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Dehydration, Cardiomyopathy, Failure to thrive, Pancreatitis	ORPHA:79312
Trisomy 13	Ventricular septal defect, Abnormal eyelash morphology, Hydrops fetalis, Hernia, Atrial septal de...	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
11Q22.2Q22.3 Microdeletion Syndrome	Posteriorly rotated ears, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors...	ORPHA:444002
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Neona...	OMIM:620244
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s...	ORPHA:93952
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respir...	ORPHA:178320
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnorma...	ORPHA:251004
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Inappropriate laughter, Obesity	ORPHA:411515
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Ataxia, Hyperkalemia, Slurred speech, Renal tubular epithelial nec...	ORPHA:31826
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Hyperparathyroidism, Short femur, Recurrent fractures, Metaphyseal s...	OMIM:618188
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Splenomegaly, Panc...	ORPHA:1655
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Spasticity, Weight loss, Opisthotonus, Tip-toe gait, Gai...	ORPHA:216866
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Arthrogryposis multiplex congenita, Short stature, Nonimmune hydrops fetalis, Decreased body weight	OMIM:618265
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo...	OMIM:176270
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, ...	OMIM:617022
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Gracile Bone Dysplasia	Ascites, Hypocalcemia	OMIM:602361
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia	OMIM:239199
Farber Disease	Respiratory distress, Failure to thrive, Short stature, Flexion contracture, Hydrops fetalis, Res...	ORPHA:333
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis	OMIM:616738
Nephronophthisis 15	Obesity	OMIM:614845
Tularemia	Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough...	ORPHA:3392
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Postnatal growth retardation, Tremor, Rigidity, C...	ORPHA:391417
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Hypercalcemia, Elevated urinary norepinephrin...	ORPHA:94080
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Miscarriage, Abnormal blood ion conce...	ORPHA:173
Chylomicron Retention Disease	Impaired vibratory sensation, Failure to thrive, Decreased LDL cholesterol concentration, Steator...	OMIM:246700
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Buerger Disease	Skin ulcer	ORPHA:36258
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Upper eyelid edema, Hypogonadism, Hernia,...	ORPHA:168569
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Short stature, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment...	OMIM:618124
Peroxisome Biogenesis Disorder 3B	Ataxia, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steat...	OMIM:266510
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger...	ORPHA:251028
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chore...	OMIM:618093
Classic Mycosis Fungoides	Alopecia, Dry skin, Erythema, Skin ulcer	ORPHA:2584
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Nonimmune hydrops fetalis, Premature birth, Respiratory insufficiency,...	OMIM:166210
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Gait ataxia,...	ORPHA:225147
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ...	ORPHA:137898
Retinitis Pigmentosa 51	Pallor, Obesity	OMIM:613464
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Succinic Acidemia	Respiratory distress	OMIM:600335
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Short stature, Decreased LDL ch...	OMIM:616834
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature...	OMIM:300957
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F...	OMIM:610921
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyr...	OMIM:145001
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa...	OMIM:277590
Igg4-Related Thyroid Disease	Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi...	ORPHA:64744
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Carnitine Deficiency, Systemic Primary	Respiratory distress, Cardiomegaly, Dehydration, Cardiomyopathy, Endocardial fibroelastosis, Hype...	OMIM:212140
Hypophosphatasia, Infantile	Death in infancy, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Ano...	OMIM:241500
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism...	OMIM:615768
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Ataxia, Aggressive behavior, Pica, Obesity, Protruding ear, Large earlobe, Organic aciduria, Over...	OMIM:620191
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
19P13.12 Microdeletion Syndrome	Hyperactivity, Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, External ear malformatio...	ORPHA:254346
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro...	OMIM:607823
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad...	ORPHA:363710
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Aplasia/Hypoplasia of the cerebellum, Tremor, Cryptorchidism, Sensori...	ORPHA:1192
Chung-Jansen Syndrome	Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Large earlobe, Attention deficit hyper...	OMIM:617991
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R...	OMIM:213600
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Lipodystrophy, Periorbital edema, Flexion contracture, Panniculitis, Failur...	OMIM:617591
Den Hoed-De Boer-Voisin Syndrome	Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Overweight, Obesity, Upp...	OMIM:619229
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T...	ORPHA:91
Rajab Interstitial Lung Disease With Brain Calcifications 1	Inguinal hernia, Pancytopenia, Small for gestational age, Recurrent urinary tract infections, Hyp...	OMIM:613658
Trisomy 5P	Obesity	ORPHA:1742
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem...	OMIM:610185
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Reticular Dysgenesis	Failure to thrive, Skin ulcer, Weight loss	ORPHA:33355
Acrogeria	Excessive wrinkled skin, Skin ulcer, Fine hair	ORPHA:2500
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,...	ORPHA:14
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Impaired glucose tolerance, Short stature, Splenomegaly, Chronic ki...	OMIM:615630
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Premature adrenarche, Short st...	ORPHA:739
Mccune-Albright Syndrome	Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali...	ORPHA:562
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Prec...	ORPHA:819
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Lethargy, Hashimoto thyroiditi...	ORPHA:199299
Trisomy 1Q	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:261344
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
13Q12.3 Microdeletion Syndrome	Hyperactivity, Short stature, Congenital diaphragmatic hernia, Impaired pain sensation, Cryptorch...	ORPHA:412035
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Ataxia, Short stature, Abnormal testis morphology, Tremor, ...	ORPHA:100
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism...	ORPHA:508
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss	ORPHA:2126
Bacterial Toxic-Shock Syndrome	Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine...	ORPHA:36234
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia, Hypopituitarism, Hypothyroidism, Oligohydramnios	OMIM:619013
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss	ORPHA:312
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification	ORPHA:75234
48,Xxxy Syndrome	Renal dysplasia, Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Tremor,...	ORPHA:96263
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Short stature, Abnormality of the ureter, Obesity, Hypoplasia ...	ORPHA:1035
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Pediatric-Onset Graves Disease	Hyperactivity, Craniosynostosis, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goite...	ORPHA:525731
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Rhabdoid Tumor	Renal neoplasm, Cerebral palsy, Hypercalcemia, Lymphadenopathy, Anemia, Weight loss, Hematuria, H...	ORPHA:69077
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
22Q11.2 Deletion Syndrome	Polyhydramnios, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Conductive hearing...	ORPHA:567
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	OMIM:237310
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Short stature, Clonus, Thrombocytopenia, Leukocytosis...	OMIM:259720
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Bardet-Biedl Syndrome 4	Obesity	OMIM:615982
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Poor coordination, Obesity,...	OMIM:618430
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism...	OMIM:614613
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Hyperactivity, Short stature, Aggressive behavior, Hypothyroidism, Sensorineu...	OMIM:600430
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Tremor, Obesity, Large earlobe, Gai...	OMIM:619312
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Sensorineural hear...	ORPHA:261197
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Respiratory distress, Pulmonary edema, Cardiomegaly, Pericardial effusio...	OMIM:115197
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Abnormal pinna morphology, Obesity, Congenital hypothyroidism, Large fleshy ears, Cerebellar hypo...	ORPHA:352530
Vipoma	Anorexia, Dehydration, Follicular thyroid carcinoma, Hypokalemia, Increased circulating cortisol ...	ORPHA:97282
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypercalcemia, Hypophosphatemia	OMIM:156400
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hypoplasia of penis, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressiv...	ORPHA:85293
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Mild postnatal growth retardation, Ventricular septal defect, Nonim...	OMIM:235510
Morm Syndrome	Truncal obesity	ORPHA:75858
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Facial paralysis, Failure to thrive, Thrombocyt...	OMIM:259700
Trisomy 18P	Short stature, Micrognathia, Abnormal foot morphology, Abnormal finger morphology, Attention defi...	ORPHA:1715
Mgat2-Cdg	Respiratory distress, Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Long...	ORPHA:79329
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Man1B1-Cdg	2-3 toe syndactyly, Truncal obesity, Clinodactyly of the 5th finger, Polyphagia, Joint hypermobility	ORPHA:397941
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Renal hypoplasia, Spasticity, Nephroca...	OMIM:617913
White-Sutton Syndrome	Duplicated collecting system, Waddling gait, Hyperactivity, Posteriorly rotated ears, Short statu...	OMIM:616364
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Adrenal hypoplasia, Hypercalcemia, Decreased response to growth hormone stimulation test	OMIM:614732
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I...	ORPHA:79240
Cardiac Valvular Dysplasia 1	Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, V...	OMIM:212093
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w...	OMIM:614450
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Camptod...	ORPHA:99776
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, ...	ORPHA:95409
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A...	ORPHA:2306
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia, Ankle flexion contracture, Gait imbalance, Lethargy	OMIM:618120
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dy...	OMIM:210000
Tenorio Syndrome	Cerebral palsy, Hypoglycemia, Clumsiness, Enuresis, Gait disturbance, Hypoinsulinemia	OMIM:616260
Stt3B-Cdg	Respiratory distress, Intrauterine growth retardation, Failure to thrive	ORPHA:370924
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Small for gestational age, Polyhydramnios, Large for gest...	ORPHA:254534
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Cardiomyopathy, Abnormal odontoid tissue morphology, Aspiration pneumonia, Abnor...	ORPHA:79255
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:264580
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ...	OMIM:175700
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy	ORPHA:86812
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Low-set, posteriorly rotated ears, Precocious puberty, Postnatal growth retardation, Obesity, Poo...	ORPHA:254525
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Abnormal heart morphology, Hypocal...	ORPHA:2237
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145980
4H Leukodystrophy	Cerebellar atrophy, Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, D...	ORPHA:289494
Ddost-Cdg	Short stature, Lipodystrophy, Tremor, Oromotor apraxia, Primary hypothyroidism, Failure to thrive...	ORPHA:300536
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Intellectual Developmental Disorder, Autosomal Dominant 1	Short palm, Sandal gap, Short stature, Aggressive behavior, Micrognathia, Postnatal growth retard...	OMIM:156200
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia, Dehydration	ORPHA:35710
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Spasticity, Hydrocele testis, Cerebellar hypoplasia, Hypocholesterolemia, Neonata...	OMIM:618810
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Fibrochondrogenesis 1	Omphalocele, Rhizomelia, Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the han...	OMIM:228520
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Intrauterine growth retardation, Failure to thrive	OMIM:615597
Mucopolysaccharidosis Type 7	Inguinal hernia, Lymphedema, Hydrops fetalis, Hepatitis, Umbilical hernia, Ascites	ORPHA:584
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Disproportionate short-limb short stature,...	OMIM:269250
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Dracunculiasis	Skin ulcer	ORPHA:231
Clark-Baraitser Syndrome	Hyperactivity, Aggressive behavior, Obesity, Large earlobe, Low-set ears	OMIM:617752
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Cough	ORPHA:142
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Short stature, Uplifted earlobe, Cryptorchidism, Truncal obesity, ...	ORPHA:3459
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Short stature, Hearing impairment, Disproportionate short statu...	OMIM:618363
Platyspondylic Dysplasia, Torrance Type	Hydrops fetalis, Polyhydramnios	ORPHA:85166
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, A...	ORPHA:79282
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Sensorineur...	OMIM:302800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Hydrops fetalis, Fine hair, Sparse hair, Ascites, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Whipple Disease	Hyponatremia, Cachexia, Insulin resistance, Pedal edema, Hypothyroidism	ORPHA:3452
Nocardiosis	Respiratory distress, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysema, Infectious e...	ORPHA:31204
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Pleural effusion,...	ORPHA:340
Mogs-Cdg	Respiratory distress, Hypoventilation, Alopecia, Pulmonary edema, Left ventricular hypertrophy, A...	ORPHA:79330
Luscan-Lumish Syndrome	Short stature, Aggressive behavior, Advanced ossification of carpal bones, Obesity, Long foot, Po...	OMIM:616831
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot...	OMIM:188400
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr...	OMIM:601678
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Failure to thrive, Hypoglycemia, Delayed puberty	ORPHA:369
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa...	OMIM:615157
Down Syndrome	Renal hypoplasia/aplasia, Impaired pain sensation, Obesity, Gait disturbance, Type II diabetes me...	ORPHA:870
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Hyperlipidemia	ORPHA:90153
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Edema	OMIM:177000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,...	OMIM:610978
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Alg9-Cdg	Thickened nuchal skin fold, Decreased fetal movement, Omphalocele, Rhizomelia, Ventricular septal...	ORPHA:79328
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h...	OMIM:620011
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia o...	ORPHA:3409
Somatostatinoma	Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c...	ORPHA:97283
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Familial Chylomicronemia Syndrome	Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concen...	ORPHA:444490
Infant Acute Respiratory Distress Syndrome	Premature birth, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure, Pulmonary e...	ORPHA:70587
Leigh Syndrome	Multiple joint contractures, Chorea, Choreoathetosis, Complex organic aciduria, Neutropenia, Atax...	ORPHA:506
Catel-Manzke Syndrome	Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Micrognathia, Postna...	OMIM:616145
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Palpebral edema, Polyhydramnios, Fetal pyelectasis, Generalized hypertricho...	ORPHA:50810
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Thrombocytopenia...	ORPHA:2785
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, I...	OMIM:267700
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Dystonia, Ataxia, Rhizomelia, Neonatal hypoglycemia, Polyhydramnios, Tremor, ...	OMIM:616271
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Elevated circulating alpha-fetoprotein ...	OMIM:616267
Monosomy 13Q34	Insulin resistance, Hypercalcemia, Obesity	ORPHA:96168
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Inguinal hernia, Edema of the dorsum of feet, Edema of the dorsum of hands,...	ORPHA:544503
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Ectopic kidney, External ear malforma...	ORPHA:2136
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f...	OMIM:619503
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer's cramp, Dystonia, Head tit...	OMIM:312080
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture	ORPHA:2596
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Lipoatrophy, Short stature, Decreased serum leptin, Limited elbow movement, Jo...	OMIM:614008
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Dehydration, Cardiomyopathy, Tubulointerstitial nephritis, Failure to thriv...	OMIM:251000
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy...	OMIM:617667
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Pulmonary edema, Left atrial enlargement, Postnatal growth retardation, Dyspnea, Perip...	ORPHA:75249
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis	ORPHA:97285
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Decreased fetal movement, Hip contracture, Limb joint contracture, Nonimmun...	OMIM:620369
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Hypergonadotropic hypogonadism, Urinary incontinence, Ataxia, Tremor, Abnorma...	OMIM:617145
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Immunodeficiency 61	Obesity	OMIM:300310
Malaria	Respiratory distress	ORPHA:673
Atypical Werner Syndrome	Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnormal circulating lep...	ORPHA:79474
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Werner Syndrome	Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:277700
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Ataxia, Elevated circulating creatine kinase concentration, Short stature, Tremo...	OMIM:617675
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Decreased response to growth hormone stimulation test, Overweight, Tremor, Self-mu...	ORPHA:457240
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Edema, Myocarditis, Hyperkalemia, Pleural empyema, Hypocalcemia,...	ORPHA:544482
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Cerebellar vermis hy...	OMIM:620330
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ...	ORPHA:536532
Chitayat Syndrome	Respiratory distress, Tracheomalacia, Short stature, Polyhydramnios	OMIM:617180
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Precocious pub...	ORPHA:163681
Achondrogenesis, Type Ia	Polyhydramnios, Increased nuchal translucency, Disproportionate short-trunk short stature, Hydrop...	OMIM:200600
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Short stature, Obesity, Microtia, Low-set ears, Tall sta...	OMIM:618089
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Anemia, Congenital Dyserythropoietic, Type Ia	Small for gestational age, Mild postnatal growth retardation, Hydrops fetalis	OMIM:224120
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ...	OMIM:620135
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Hypercalcemia,...	ORPHA:276621
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc...	OMIM:613986
Laurence-Moon Syndrome	Ataxia, Short stature, Spastic paraplegia, Obesity, Micropenis	OMIM:245800
Campomelia, Cumming Type	Oligohydramnios, Hydrops fetalis, Lymphedema	ORPHA:1318
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Death in early adulthood, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Sh...	OMIM:607694
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ...	OMIM:616795
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ...	ORPHA:125
Nipah Virus Disease	Respiratory distress, Infectious encephalitis, Cough	ORPHA:99825
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Premature birth, Polyhydramnios, Dyspnea, Respiratory failure	ORPHA:2759
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis, Hearing impairment	OMIM:615996
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Edema, Periorbital edema, Hypoalbuminemia, Hypercholesterolemia, Abnormal c...	ORPHA:567548
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteomyelitis, Failure to thrive in infancy, Skin rash, Pustule, Joint swel...	OMIM:612852
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Growt...	ORPHA:765
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Congenital contracture, Neonatal respiratory distress	OMIM:615042
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
Xp22.13P22.2 Duplication Syndrome	Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Slowed slurr...	ORPHA:284180
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid...	ORPHA:3157
Parathyroid Carcinoma	Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:143
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Ataxia, Obesity, Dystonia, Oculomotor apraxia	ORPHA:459033
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Small for gestational age, Hypospadias, Ataxia, Tremor, Cryptorchidism, Hyperamm...	OMIM:614052
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, Respiratory distress	ORPHA:89844
Joubert Syndrome 37	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Short stature, Cryptorchidism, Obesity, H...	OMIM:619185
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Dysmetria, Abnormal repetitive mannerisms, Low-set, posteriorly ...	ORPHA:96121
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes...	ORPHA:98794
Glucagonoma	Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c...	ORPHA:97280
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Cellulitis	ORPHA:238459
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Short stature, Inability to walk, Unsteady gait, Obesity, Protruding ...	OMIM:618443
Angelman Syndrome	Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Aggressive behavior, Trem...	ORPHA:72
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circula...	ORPHA:90041
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behavio...	ORPHA:476126
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst...	OMIM:617013
Nasolacrimal Duct Cyst	Intercostal retractions, Chronic irritative conjunctivitis, Periorbital edema, Episodic respirato...	ORPHA:141083
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Ataxia, Anterior pituitary hypoplasia, Short stature, Postnatal gr...	OMIM:616113
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Flexion contracture	OMIM:618201
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Flynn-Aird Syndrome	Alopecia, Skin ulcer, Cachexia	ORPHA:2047
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal obesity, ...	OMIM:209900
Macrocephaly/Autism Syndrome	Large for gestational age, Obesity, Cutis laxa, Coarse hair, Overgrowth	OMIM:605309
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Impaired proprioception, Growth delay, Steatorrhea, Failure...	ORPHA:71
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Persistent fetal circulation, Respiratory distress, Sparse eyelash...	OMIM:612863
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Pancreatitis, Respiratory distress	ORPHA:289916
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Short stature, Aggressive behavior, Cryptorchidism, Hypocalc...	OMIM:192430
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Pde4D Haploinsufficiency Syndrome	Posteriorly rotated ears, Abnormal dental enamel morphology, Hypospadias, Postnatal growth retard...	ORPHA:439822
Hypocalciuric Hypercalcemia, Familial, Type Ii	Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145981
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Failure to thrive, Rhizomelia, Mucopolysacchariduria, Hypocalc...	ORPHA:175
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Hypercalcemia,...	ORPHA:29072
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Flexion contracture of finger, Hypertriglyceridemia, Imp...	OMIM:256040
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation, Decreased fetal movement, Fetal distress	OMIM:619793
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Distal Deletion 12Q	Ectopic kidney, Proportionate tall stature, Vesicoureteral reflux, Micropenis, Self-mutilation, H...	ORPHA:96149
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f...	OMIM:614299
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Short stature, Tremor, Increased urinar...	ORPHA:812
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Hyperammonemia, Dehydration, Hyperglycemia, Failure to thrive	OMIM:615453
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidit...	OMIM:261640
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Breech presentation, Dispr...	OMIM:616482
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg...	OMIM:609069
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Finger clinodactyly, Tics, C...	ORPHA:508488
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Adiposis Dolorosa	Sparse pubic hair, Dry skin, Obesity, Sparse axillary hair	ORPHA:36397
Smith-Lemli-Opitz Syndrome	Renal cyst, Chiari type I malformation, Hypertonia, Hypoalbuminemia, Hypocholesterolemia, Micrope...	OMIM:270400
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Hyperthyroidism, Short stature, Tremor, Dysmetria, Growth delay, Pro...	ORPHA:502423
Cornelia De Lange Syndrome 5	Short stature, Postnatal growth retardation, Cryptorchidism, Truncal obesity, Hypogonadism, Micro...	OMIM:300882
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Edema, Abnormal glucose homeostasis, Hyperglycemia, Ascites	ORPHA:391673
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Small for gestational age, Sparse body hair	OMIM:300869
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,...	OMIM:619680
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Sp...	OMIM:617710
Saccharopinuria	Citrullinuria, Short stature, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Gait ataxia, D...	ORPHA:3124
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Inguinal hernia, Multiple joint contractures, Short stature, Neonatal r...	OMIM:265000
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
Dubowitz Syndrome	Inguinal hernia, Hyperactivity, Aplastic anemia, Hypospadias, Short stature, Postnatal growth ret...	OMIM:223370
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Death in infancy, Dystonia, Tremor, Inability to walk, Horseshoe kidney, Spas...	OMIM:617664
Proximal 16P11.2 Microduplication Syndrome	Short stature, Congenital diaphragmatic hernia, Tremor, Microtia, Compulsive behaviors, Attention...	ORPHA:370079
Polyarteritis Nodosa	Erythema, Skin ulcer, Weight loss	ORPHA:767
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E...	ORPHA:465508
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,...	OMIM:208920
Adnp Syndrome	Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Short stature, Oral-pharyngeal dysphagia...	ORPHA:404448
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ankle flexion contracture, Knee flexion contracture, Camptodactyly, Failure...	OMIM:608799
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c...	OMIM:615673
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating...	ORPHA:99880
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Generalized edema, Flexion contracture, Hypertrichosis	OMIM:271225
White-Sutton Syndrome	Ventral hernia, Duplicated collecting system, Inguinal hernia, Hyperactivity, Posteriorly rotated...	ORPHA:468678
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Decreased fetal movement, Respiratory distress, Polyhydramnios	OMIM:300219
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,...	ORPHA:99027
X-Linked Intellectual Disability, Stevenson Type	Tall stature, Obesity, Thick eyebrow	ORPHA:85325
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Hip contracture, Premature birth, Nonimmune hydrops fetalis, Polyhydram...	OMIM:208150
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae	ORPHA:64745
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri...	OMIM:611302
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline, Cerebral edema	OMIM:603471
Myotonic Dystrophy 1	Respiratory distress, Decreased fetal movement, Polyhydramnios, Frontal balding	OMIM:160900
Hypophosphatasia	Hypercalcemia	ORPHA:436
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Large for gestational age, Seborrhe...	OMIM:300868
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Dehydration, Compulsive behaviors,...	ORPHA:3008
Chromosome 3Q29 Duplication Syndrome	Obesity, Low posterior hairline	OMIM:611936
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Gait disturbance, Camptodactyly of finger, Short stature	ORPHA:2928
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Aggressive behavior, Flexion contracture, Growth delay, Polydactyly, ...	ORPHA:17
Tatton-Brown-Rahman Syndrome	Proportionate short stature, Aggressive behavior, Cryptorchidism, Obesity, Chiari malformation, P...	ORPHA:404443
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity	ORPHA:69663
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Short stature, Aggressive behavior, Obesity, Oligohydramnios, Microtia, Low-set ears, Hearing imp...	OMIM:619056
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing...	ORPHA:1329
Diaphanospondylodysostosis	Respiratory distress, Inguinal hernia, Increased nuchal translucency, Disproportionate short-trun...	OMIM:608022
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L...	OMIM:278000
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Inguinal hernia, Growth delay, Pulmonary arterial hypertension, Failure to ...	OMIM:619272
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In...	ORPHA:411511
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Flexion contracture, Babinski sign, Dysme...	OMIM:616505
Necrobiosis Lipoidica	Erythema, Skin ulcer	ORPHA:542592
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Aggre...	ORPHA:261494
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Generalized edema, Hypertriglyceridemia, Edema, Increased circulating ferritin conc...	OMIM:603553
Wagr Syndrome	Short stature, Cryptorchidism, Obesity, Dysfunction of lateral corticospinal tracts, Displacement...	ORPHA:893
Greenberg Dysplasia	Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc...	OMIM:215140
Ppoma	Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore...	ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Dent Disease 1	Hypophosphatemia	OMIM:300009
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Protruding ear, Hypertonia, Tics, Compulsive behaviors, Micropenis, Abnormal repetitive m...	OMIM:619475
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Breech presentation, Increased m...	OMIM:261740
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Short stature,...	OMIM:264090
Congenital-Onset Steinert Myotonic Dystrophy	Speech apraxia, Hyperactivity, Polyhydramnios, Obesity, Poor fine motor coordination, Enuresis, D...	ORPHA:589821
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir...	ORPHA:449291
Secondary Short Bowel Syndrome	Weight loss, Central hypothyroidism, Growth delay, Primary hypothyroidism, Failure to thrive, Pol...	ORPHA:95427
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia, Edema	OMIM:600995
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Hypoxemia	ORPHA:2140
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Supernumerary nipple, Congenital diaphragmatic herni...	ORPHA:1001
Q Fever	Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Ma...	ORPHA:781
Chilblain Lupus	Skin ulcer	ORPHA:90280
Isolated Agammaglobulinemia	Failure to thrive, Skin ulcer	ORPHA:229717
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Polyhydramnios, Low anterior hairline, Contractures of the large joints, Fa...	ORPHA:329178
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Cryptorchidism, Sensorineural hearing impairment, Obesity, P...	ORPHA:464288
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Carpenter Syndrome 1	Omphalocele, Hydroureter, Abnormal pinna morphology, Short stature, Precocious puberty, Cryptorch...	OMIM:201000
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Periorbital edema, Tremo...	ORPHA:904
Cranioectodermal Dysplasia 1	Inguinal hernia, Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kid...	OMIM:218330
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Galactosialidosis	Nonimmune hydrops fetalis	OMIM:256540
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, External ear malformation, Cryptorch...	ORPHA:251071
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp...	ORPHA:314655
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha...	ORPHA:100050
Leishmaniasis	Pallor, Skin ulcer, Weight loss	ORPHA:507
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp...	ORPHA:478
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Agnathia-Otocephaly Complex	Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Trac...	OMIM:202650
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Dyspnea, Growth delay, Respiratory failure, Thin eyebrow, F...	ORPHA:2707
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Increased circulating ACT...	OMIM:614736
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:96253
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe...	OMIM:265380
Chromosome 16P13.3 Deletion Syndrome, Proximal	Facial hypertrichosis, Failure to thrive, Obesity, Abnormality of the hairline	OMIM:610543
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Grfoma	Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore...	ORPHA:97261
Williams-Beuren Syndrome	Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Early onset of sexual maturation, Gl...	OMIM:194050
Gaucher Disease	Mitral valve calcification, Osteomyelitis, Short stature, Abnormal pericardium morphology, Abnorm...	ORPHA:355
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Edema, Tremor, Gait ataxia, Glucose intoleran...	ORPHA:254892
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ...	ORPHA:3455
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Short stature, Hydrops fetalis, Weight loss	OMIM:613673
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cholecystitis	OMIM:266200
Hypoglossia With Situs Inversus	Situs inversus totalis, Upper airway obstruction, Respiratory distress	OMIM:612776
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato...	ORPHA:308552
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Obesity, Pedal edema, Peripheral edema	ORPHA:563
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Truncal obesity, Bruxism, Inferior cerebellar vermis hypoplasia, Recurrent hand fl...	OMIM:613192
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Congenital Myopathy 9A	Death in infancy, Short stature, Akinesia, Cryptorchidism, Obesity, Tongue fasciculations, Oligoh...	OMIM:618822
Focal Segmental Glomerulosclerosis 1	Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites	OMIM:603278
Odontochondrodysplasia	Respiratory distress, Short stature, Dentinogenesis imperfecta	ORPHA:166272
Vici Syndrome	Lymphopenia, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Po...	OMIM:242840
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Decreased fetal movement, Respiratory failure, Fetal distress	OMIM:620166
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairline, Hir...	ORPHA:247768
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Hy...	OMIM:615300
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, P...	OMIM:214800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Failure to thrive, Ventricular septal defect,...	ORPHA:2255
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ...	ORPHA:228360
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Esophageal Atresia	Omphalocele, Respiratory distress, Ventricular septal defect, Small for gestational age, Polyhydr...	ORPHA:1199
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Compulsive behaviors, Short 4...	OMIM:615873
Lichen Planopilaris	Alopecia, Skin ulcer	ORPHA:525
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Hypomagnesemia, Reduced blood urea nitrogen, Hypophosphatemia, H...	OMIM:219800
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Hyperlipidemia, Lymphedema	ORPHA:1414
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Polyhydramnios, Absence of subcutaneous ...	OMIM:614098
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ...	ORPHA:210122
Scimitar Syndrome	Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous ...	ORPHA:185
Wagro Syndrome	Aggressive behavior, Micrognathia, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Rhizomelia, Obesity	OMIM:618821
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Posteriorly rotated ears, Hypospadias, Short stature, Cryptorchidism, Thrombo...	ORPHA:163979
Ataxia-Telangiectasia	Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thymus, Intent...	OMIM:208900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Craniofacioskeletal Syndrome	Absent gallbladder, Posteriorly rotated ears, Hypospadias, Short stature, Cryptorchidism, Microti...	OMIM:300712
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Dehydration, Weight loss, Lower-limb joint contract...	ORPHA:99885
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Short stature, Ventricular septal defect, As...	ORPHA:209905
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Aggressive behavior, Obesity, Microtia, Overgrowth, Apraxia, Oculomotor ...	OMIM:620250
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss	ORPHA:86884
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Obesity, Limb tremor, Clumsiness, Progressive gait ataxi...	OMIM:105830
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Myofiber disarray, Hypertrophic cardiomyopathy, Inspiratory stridor, Irregu...	OMIM:604377
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Lower limb spasticity, Foot joint contr...	ORPHA:90321
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Hemiplegia/hemiparesis, Chond...	ORPHA:2591
Isolated Atp Synthase Deficiency	Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Short stature	ORPHA:254913
Cranioectodermal Dysplasia 2	Atrial septal defect, Inguinal hernia, Rhizomelia, Short stature, Sparse eyelashes, Polyhydramnio...	OMIM:613610
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Low posteri...	OMIM:606164
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,...	OMIM:615418
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl...	OMIM:307030
Ramos-Arroyo Syndrome	Respiratory distress, Sparse scalp hair, Severe short stature, Keratitis, Xerostomia, Severe fail...	ORPHA:1051
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Beta-Ketothiolase Deficiency	Ketonuria, Ataxia, Hypoglycemia, Anorexia, Edema, Leukocytosis, Hyperammonemia, Weight loss, Dehy...	ORPHA:134
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Hypertonia, Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Wilson Disease	Decreased circulating ceruloplasmin concentration, Edema, Tremor, Pedal edema, Hand tremor, Amino...	OMIM:277900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Ata...	OMIM:222300
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Hyperlysinemia	Tremor, Dysmetria, Cystinuria, Opisthotonus, Hyperactivity, Short stature, Clumsiness, Hypoornith...	ORPHA:2203
Prolidase Deficiency	Skin ulcer, Low posterior hairline, Facial hirsutism, Failure to thrive, Petechiae	OMIM:170100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ...	ORPHA:369837
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, At...	OMIM:306955
Central Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:178029
Ollier Disease	Skin ulcer	ORPHA:296
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Short stature, Tremor, Abnor...	OMIM:614381
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypogl...	ORPHA:116
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Diabetes mellitus, Obesity, Pineal cyst, Abnormal circulating creatine kina...	ORPHA:98908
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Limb joint contracture, Ataxia, Short stature, Postural tremor, Splenomegaly,...	OMIM:301072
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity	OMIM:601794
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Rodrigues Blindness	Sparse hair, Nasal flaring, Short stature, Fine hair	OMIM:268320
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady ...	ORPHA:397946
Pachyonychia Congenita	Respiratory distress, Alopecia, Angular cheilitis, Nail dystrophy, Failure to thrive	ORPHA:2309
Kaufman Oculocerebrofacial Syndrome	Abnormal pinna morphology, Short stature, Thin skin, Low-set ears, Hypocholesterolemia, Failure t...	OMIM:244450
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern...	ORPHA:1435
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Failure to thrive	OMIM:607765
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Flexion contracture, Facial hirsutism, Atrial septal defect, Hypertrophic c...	OMIM:619383
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac...	OMIM:610042
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Short stature, C...	ORPHA:2839
Kniest Dysplasia	Respiratory distress, Hip contracture, Inguinal hernia, Rhizomelia, Disproportionate short-trunk ...	OMIM:156550
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Recurrent pneumonia,...	OMIM:617303
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Yunis-Varon Syndrome	Sparse scalp hair, Sparse eyelashes, Short stature, Ventricular septal defect, Cardiomegaly, Spar...	ORPHA:3472
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Truncal obesity, Large earlobe, Hypogonadism,...	ORPHA:127
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Hypoammonemia, Hypophosphatemia, Abnormal circulating calcium-...	ORPHA:534
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Hypoplasia of penis, Femoral hernia, Renal insufficiency, Cryptorchidism, Obesit...	ORPHA:96147
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Elevated urinary catecholami...	ORPHA:653
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Dystrophic fingernails, Dystrophic toenail	ORPHA:1657
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity	ORPHA:363741
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Polyhydramnios, Respiratory distress, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi...	ORPHA:43
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Erythema, Skin ulcer, Weight loss, Dry skin, Failure to th...	ORPHA:37
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Rhizomelia, Polyhydramnios, Stillbirth, Neonatal short-limb short stature	OMIM:151210
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia	ORPHA:268249
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Postnatal growth retardation, Pulmonary arterial hyper...	ORPHA:3309
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Generalized lipodystrophy, Gl...	OMIM:619127
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Pancytopenia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Elevat...	OMIM:607426
Carpenter Syndrome	Umbilical hernia, Obesity	ORPHA:65759
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Respiratory failure, Ventricular septal defect, Respiratory distress	OMIM:617895
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Death in childhood, Micropenis, Hypothyroidism, Hypo...	OMIM:243800
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias...	OMIM:300998
Takayasu Arteritis	Skin ulcer, Weight loss	ORPHA:3287
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Anterior pituitary hypoplasia, Decreased response to growth ho...	OMIM:615926
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	ORPHA:927
Hereditary Sensory And Autonomic Neuropathy Type 1	Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Poor coordination, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hyp...	OMIM:615994
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Cerebellar atrophy, Posteriorly rotated ears, Ureteral hyp...	OMIM:614080
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor	ORPHA:363618
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Umbilical hernia, Large for gestational age	ORPHA:226313
Hereditary Elliptocytosis	Postnatal growth retardation, Hydrops fetalis	ORPHA:288
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia...	ORPHA:572798
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures, Xanthelas...	ORPHA:79259
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Micrognathia, Talipes equinovarus, Broad distal ...	OMIM:300990
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Abnormal pyramidal...	OMIM:614947
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Megalencephaly	Truncal obesity	ORPHA:2477
Raine Syndrome	Hypophosphatemia	OMIM:259775
Lujo Hemorrhagic Fever	Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Facial edema, Myocarditis, Pe...	ORPHA:319213
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer	ORPHA:217390
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Low-set ears, Obesity	ORPHA:2180
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency...	OMIM:615512
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Del...	ORPHA:95496
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Abnormal pulmonary valve morphology, Hypophosphatemia	ORPHA:667
Odontochondrodysplasia 1	Respiratory distress, Mesomelic short stature, Short stature, Dentinogenesis imperfecta	OMIM:184260
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Cerebellar atrophy, Death in infancy, Cyanosis, Hypospadias, Atax...	OMIM:252010
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Short stature, Sensorineural hearing impairment, Obesity, Abnormal ...	ORPHA:98907
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth d...	OMIM:619738
Prolidase Deficiency	Erythema, Low anterior hairline, Skin ulcer, White forelock, Dry skin, Generalized hirsutism, Hir...	ORPHA:742
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal insufficienc...	ORPHA:275761
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Inflammatory abnormality of the skin, Cholangitis, Eczema, Pulmonary emboli...	ORPHA:3260
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Failure to thrive, Neonatal hyp...	OMIM:619418
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Hydrops fetalis, Dehydration, Punctate keratitis, Failure to thrive	OMIM:557000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hype...	OMIM:220110
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Posteriorly rotated ears, Hypospadias, Supernumerary nipple, Sensorineural hearing impairment, Pr...	ORPHA:3224
Sepsis In Premature Infants	Premature birth, Abnormal mucociliary clearance, Edema, Small for gestational age, Dyspnea, Nasal...	ORPHA:90051
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Scarring, Scarring alopeci...	ORPHA:95159
Shox-Related Short Stature	Obesity	ORPHA:314795
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger, Dysphagia	OMIM:618367
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Alopecia, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Dilated car...	ORPHA:79404
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus	OMIM:619269
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Supernumerary nipple, Cryptorchidism, Obesity, Micropenis, Low-set ears, Difficu...	OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Posteriorly rotated ears, Hypoglycemia, Aggressive behavior, Precocious puberty, Abnormal repetit...	OMIM:301066
Aicardi-Goutières Syndrome	Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Micropenis, Acrocyanosi...	ORPHA:51
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis	OMIM:602522
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Hypoplastic nipples, Dry skin,...	ORPHA:978
Mitchell-Riley Syndrome	Ascites, Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Lymphedema, Overweight, Inability to walk, Paraparesis, Obesity, Gait distu...	ORPHA:2822
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Erythema, Skin ulcer	ORPHA:659
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Failure to thrive	OMIM:615595
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Flexion contracture, Steatorrhea, Postprandial hyperglycemia, Arthrogryposis mul...	ORPHA:440713
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Rett Syndrome	Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic...	ORPHA:778
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short stature	OMIM:617102
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Lymphedema, Glucose intolerance, Hashimoto thyroiditis, Short stature, Obesity, L...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, Lymphedema, Glucose intolerance, Hashimoto thyroiditis, Short stature, Obesity, L...	ORPHA:99228
Monosomy X	Ectopic kidney, Lymphedema, Glucose intolerance, Hashimoto thyroiditis, Short stature, Obesity, L...	ORPHA:99226
Turner Syndrome	Ectopic kidney, Lymphedema, Glucose intolerance, Hashimoto thyroiditis, Short stature, Obesity, L...	ORPHA:881
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Short statu...	ORPHA:110
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios	OMIM:616546
12Q14 Microdeletion Syndrome	Diabetes mellitus, Short stature, Ectopic kidney, Tremor, Abnormality of the spleen, Renal hypopl...	ORPHA:94063
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici...	OMIM:606159
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hydrops fetalis, Uveitis, Hepatitis, Thyroiditis, Arthritis, Panni...	ORPHA:3261
Pyoderma Gangrenosum	Skin vesicle, Skin ulcer	ORPHA:48104
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Desbuquois Dysplasia 1	Waddling gait, Severe short stature, Obesity, Growth delay, Disproportionate short-limb short sta...	OMIM:251450
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par...	OMIM:606693
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr...	OMIM:210720
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aortic valve a...	ORPHA:2299
Kleefstra Syndrome 1	Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorchidism, Abnormal renal morph...	OMIM:610253
Inhalational Anthrax	Respiratory distress, Dyspnea, Abnormal sweat gland morphology	ORPHA:247257
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Cryptorchidism, Protruding ear, Disproportionate tall stature, Abdominal obe...	OMIM:301039
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Nephrotic Syndrome, Type 1	Small for gestational age, Edema, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef...	ORPHA:3015
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Monosomy 22Q13.3	Renal dysplasia, Hyperactivity, Palpebral edema, Impaired pain sensation, Lymphedema, Hair-pullin...	ORPHA:48652
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Lymphedema, Abnormal heart morphology, Chylothorax	ORPHA:137667
Blomstrand Lethal Chondrodysplasia	Premature birth, Rhizomelia, Polyhydramnios, Hydrops fetalis, Neonatal short-limb short stature	ORPHA:50945
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus	ORPHA:98805
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphedema, Edema, Lymphedema, Reduced circulating transferrin concentrat...	ORPHA:90363
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Thick hair, Flexion contracture, Airway obstruction, Abnormal heart morphol...	ORPHA:505248
Teratoma, Pineal	Polydipsia	OMIM:273120
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Short stature, Tremor, Splenomegaly, Decreased serum zinc, Hypogonadism, Lethargy, Decrea...	OMIM:201100
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Supernumerary nipple, Atrial septal defect, Pulm...	ORPHA:2519
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Nail dystrophy, Skin ulcer	OMIM:245660
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia, Lymphedema	OMIM:214900
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Moebius Syndrome	Respiratory distress, Arthrogryposis multiplex congenita, Camptodactyly	OMIM:157900
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia	ORPHA:90065
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Fetal ascites, Polyhydramnios, Neonatal asphyxia...	ORPHA:141127
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Arterial Tortuosity Syndrome	Respiratory distress, Inguinal hernia, Femoral hernia, Hiatus hernia, Myocarditis, Dyspnea, Dilat...	ORPHA:3342
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Lymphade...	ORPHA:29073
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chro...	ORPHA:25
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen...	OMIM:619405
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Short stature, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity	OMIM:618493
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Uplifted ...	OMIM:613406
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Short stature, Small fo...	OMIM:260400
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Presynaptic Congenital Myasthenic Syndromes	Decreased fetal movement, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respira...	ORPHA:98914
Congenital Myasthenic Syndrome	Decreased fetal movement, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respira...	ORPHA:590
Ring Chromosome Y Syndrome	Streak ovary, Unilateral cryptorchidism, Hypospadias, Short stature, Cryptorchidism, Obesity, Per...	ORPHA:261529
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum	OMIM:604416
Papa Syndrome	Skin ulcer	ORPHA:69126
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Abnormal cardiac septum morp...	OMIM:217980
Cockayne Syndrome A	Tremor, Micropenis, Loss of facial adipose tissue, Ataxia, Short stature, Cryptorchidism, Gait di...	OMIM:216400
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth...	OMIM:616629
Cockayne Syndrome B	Tremor, Death in childhood, Micropenis, Loss of facial adipose tissue, Ataxia, Cerebellar calcifi...	OMIM:133540
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou...	ORPHA:740
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Hypoplasia of the pons, Sensorineural hearing impairm...	OMIM:620155
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, ...	OMIM:613309
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Coccidioidomycosis	Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Eryth...	ORPHA:228123
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Neonatal hypoglycemia, Tremor, Flexion contra...	ORPHA:821
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Broad-based gait, Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Abnormalit...	ORPHA:369950
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Respiratory distress, Failure to thrive in infancy, Edema, Cardiomegaly,...	ORPHA:51608
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Decreased fetal movement, Breech presentation, Respiratory failure, Chyloth...	OMIM:620278
Biotinidase Deficiency	Respiratory distress, Alopecia, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperven...	ORPHA:79241
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Cryoglobulinemic Vasculitis	Petechiae, Skin ulcer, Purpura	ORPHA:91138
Momo Syndrome	Underfolded helix, Short stature, Large for gestational age, Abnormality of the thyroid gland, Ob...	ORPHA:2563
Joubert Syndrome With Hepatic Defect	Inguinal hernia, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Cerebellar vermis hyp...	ORPHA:1454
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Urinary incontinence, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidit...	OMIM:618877
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia, Hiatus hernia	ORPHA:71272
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor...	ORPHA:2322
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Failure to thrive, Dehydration	OMIM:251110
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia...	OMIM:137440
Listeriosis	Respiratory distress, Pericarditis, Osteomyelitis, Premature birth, Pneumonia, Pustule, Myocardit...	ORPHA:533
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Skin vesicle, Dystrophic fingernails, Skin ulcer	ORPHA:2314
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly	ORPHA:309155
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Short stature, Respiratory distress	OMIM:610536
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Cough, Pleural effusion, Pr...	ORPHA:1546
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Inguinal hernia, Ketonuria, Small for gestational age, Hypospadias, Ataxia, Hyp...	OMIM:220111
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,...	OMIM:620327
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Polyhydramnios, Spastic paraplegia, Obesity, Lower limb hypertonia, Tip-toe gait, Spastic gait, L...	OMIM:617296
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:216550
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Scarring, Increased connec...	ORPHA:79277
Metaphyseal Chondrodysplasia, Schmid Type	Waddling gait, Disproportionate short-limb short stature, Obesity	ORPHA:174
1P36 Deletion Syndrome	11 pairs of ribs, Short stature, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, ...	ORPHA:1606
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen...	OMIM:277400
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Skin ulcer, Fine hair	ORPHA:1806
Ulnar-Mammary Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Cryptorchidism, Obesity, Renal hypop...	ORPHA:3138
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Alexander Disease	Diabetes mellitus, Ataxia, Clonus, Precocious puberty, Tremor, Chorea, Abnormal pyramidal sign, T...	ORPHA:58
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon...	ORPHA:177907
Achondroplasia	Rhizomelia, Disproportionate short stature, Obesity, Hypoxemia, Hearing impairment	ORPHA:15
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Cardiomegaly, Respiratory insufficiency due to muscle weakness, ...	ORPHA:365
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Diamond-Blackfan Anemia	Short stature, Ventricular septal defect, Nonimmune hydrops fetalis, Small for gestational age, L...	ORPHA:124
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Failure to thrive, Cachexia	ORPHA:206436
Primrose Syndrome	Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Glucose intolerance, Tic...	OMIM:259050
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Postnatal growth reta...	ORPHA:536467
Dpagt1-Cdg	Lipodystrophy, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Abnormal cerebel...	ORPHA:86309
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Dystonia, Clonus, Tremor, Sensorineural hearing impairment, Dysphagia, Growth d...	OMIM:617248
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Compulsive behaviors, Vesicoureteral reflux, Conductive hearing impairment, Abnormal repetitive m...	ORPHA:353281
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Abse...	OMIM:305100
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity	OMIM:194072
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Phocomelia, Schinzel Type	Intrauterine growth retardation, Disproportionate short stature, Hydrops fetalis	ORPHA:2879
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect, Hydrops fetalis	OMIM:263520
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Polyhydramnios, Ascites, Intrauterine growth retardation, Failure to thrive	OMIM:617156
Pmm2-Cdg	Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g...	ORPHA:79318
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response, Cardiomegaly	OMIM:268800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Chiari type I malformation, Compulsive behaviors, Vesicoureteral reflux, Conducti...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Chiari type I malformation, Compulsive behaviors, Vesicoureteral reflux, Conducti...	ORPHA:353277
Meier-Gorlin Syndrome 1	Respiratory distress, Failure to thrive, Small for gestational age, Breech presentation, Flexion ...	OMIM:224690
Toxic Epidermal Necrolysis	Respiratory distress, Weight loss, Restrictive ventilatory defect, Conjunctivitis, Cough, Abnorma...	ORPHA:537
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Aggressive behavior, Dilatation of renal calices, Sensorineural hearing...	ORPHA:466943
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Dehydration, Cardiomyopathy, Thin eyebrow, Aspiration, Failure to th...	ORPHA:2131
Cohen Syndrome	Failure to thrive in infancy, Short stature, Cryptorchidism, Sensorineural hearing impairment, Ap...	ORPHA:193
Rubinstein-Taybi Syndrome 1	Respiratory distress, Polyhydramnios, Flexion contracture, Low anterior hairline, Atrial septal d...	OMIM:180849
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Japanese Encephalitis	Respiratory distress, Irregular respiration, Elbow flexion contracture, Respiratory paralysis, In...	ORPHA:79139
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Elevated circul...	OMIM:606002
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum	OMIM:150550
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Hypertonia,...	OMIM:616078
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Edema, Pericardial effusion, Increased circulating ferritin c...	ORPHA:167
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Incre...	OMIM:613179
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Posteriorly rotated ears, Aggressive behavior, Dilatation of renal calices, Obesity, Prominent an...	ORPHA:466950
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, E...	ORPHA:83617
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Failure to thrive, Short stature, Osteomyelitis leading to amputation due t...	OMIM:256810
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis...	ORPHA:797
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Precocious puberty, Tremor, Spasticity, Choreoathetosis, Self-...	ORPHA:1934
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Short stature, Atrial septal defect, Unilateral breast hypoplasia, Hypertri...	OMIM:300968
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Disprop...	ORPHA:2637
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Niemann-Pick Disease Type C	Fetal ascites, Hydrops fetalis, Respiratory insufficiency, Respiratory failure, Aspiration pneumo...	ORPHA:646
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Failure to thrive, Dehydration	OMIM:251100
Myhre Syndrome	Small for gestational age, Ataxia, Short stature, Pericardial effusion, Cryptorchidism, Obesity, ...	OMIM:139210
Ochoa Syndrome	Polydipsia	ORPHA:2704
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Unilateral Polymicrogyria	Cyanosis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, ...	ORPHA:268943
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr...	OMIM:619573
Joubert Syndrome 8	Oculomotor apraxia, Hypertonia, Ataxia, Obesity	OMIM:612291
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Respiratory distress	OMIM:231680
Acquired Purpura Fulminans	Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Failure to thrive	OMIM:616881
Eisenmenger Syndrome	Respiratory distress, Ventricular septal defect, Increased pulmonary vascular resistance, Wheezin...	ORPHA:97214
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Hypertonia, Compulsive behaviors, Vesicoure...	ORPHA:199
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Yunis-Varon Syndrome	Sparse scalp hair, Absent nipple, Sparse eyelashes, Ventricular septal defect, Premature birth, P...	OMIM:216340
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Aggressive behavior, Metatarsus adductus, Polyphagia, ...	OMIM:607872
Acute Radiation Syndrome	Scaling skin, Skin ulcer	ORPHA:454831
Ear-Patella-Short Stature Syndrome	Respiratory distress, Severe short stature, Camptodactyly of finger, Dyspnea, Growth delay, Respi...	ORPHA:2554
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Inguinal hernia, Short fourth metatarsal, Toe syndactyly, ...	OMIM:134780
Juvenile Dermatomyositis	Alopecia, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:93672
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
Chops Syndrome	Short stature, Cryptorchidism, Splenomegaly, Obesity, Vesicoureteral reflux, Horseshoe kidney, Th...	OMIM:616368
45,X/46,Xy Mixed Gonadal Dysgenesis	Bilateral cryptorchidism, Epispadias, Micropenis, Hypothyroidism, Ovarian serous cystadenoma, Pen...	ORPHA:1772
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Glomerulonephritis, Wheezing, Tachypnea, Pneumothorax, Tub...	ORPHA:90068
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio...	OMIM:612953
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Failure to thrive, Apnea, Short nail, Polyhy...	OMIM:114290
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Hypospadias, Decreased response to g...	ORPHA:444077
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Severe short stature, Abnormal dental enamel morphology, Congenital diaphra...	ORPHA:2556
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, Glucose intolerance, H...	OMIM:616539
Giant Cell Arteritis	Alopecia, Skin ulcer, Weight loss	ORPHA:397
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia, Delayed puberty	OMIM:232200
Infantile Systemic Hyalinosis	Failure to thrive, Skin ulcer	ORPHA:2176
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Heart Defects, Congenital, And Other Congenital Anomalies	Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap...	OMIM:600001
Diamond-Blackfan Anemia 21	Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow	OMIM:620072
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Hypospadias, Phimosis, Obesity, Dysmetria, Gait ataxia, Cerebe...	ORPHA:75857
Stüve-Wiedemann Syndrome	Respiratory distress, Short stature, Camptodactyly of finger, Apnea, Asthma, Flexion contracture,...	ORPHA:3206
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Highly arched eye...	OMIM:616268
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Cryptorchidism, Obesity, Hypogonadism, Cerebellar hypoplasia, Moderate albumin...	OMIM:614231
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Reynolds Syndrome	Skin ulcer	ORPHA:779
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity, Low-set ears, Hearing impairment	ORPHA:251038
White-Kernohan Syndrome	Hydroureter, Obesity, Horseshoe kidney, Low-set ears, Attention deficit hyperactivity disorder, M...	OMIM:619426
Histidinemia	Hyperactivity	ORPHA:2157
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Obesity	ORPHA:319675
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Tangier Disease	Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Impaired temperature sensation, Thro...	ORPHA:31150
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Failure to thrive	OMIM:618426
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Nephronophthisis 4	Polydipsia	OMIM:606966
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Facial edema, Hyperlipidemia, Pedal edema, Anasarca, Hypoalbuminemia, Ple...	ORPHA:567546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g...	OMIM:253800
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature	OMIM:183900
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer	ORPHA:1334
Dominant Beta-Thalassemia	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Dilated cardiomyopathy, Episodic respiratory distress, Hypertrophic cardiomyopath...	ORPHA:255210
Xylt1-Cdg	Truncal obesity, Synophrys, Hirsutism	ORPHA:370930
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Umbilical hernia	ORPHA:1555
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Failure to thrive	OMIM:617864
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Scorpion Envenomation	Restlessness, Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Ataxia,...	ORPHA:466677
Lysinuric Protein Intolerance	Hypolysinemia, Short stature, Increased circulating ferritin concentration, Thrombocytopenia, Spl...	OMIM:222700
Microscopic Polyangiitis	Erythema, Skin ulcer	ORPHA:727
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperacti...	OMIM:234200
African Trypanosomiasis	Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor fu...	ORPHA:3385
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220393
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Plague	Respiratory distress, Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Enterocolit...	ORPHA:707
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Osteoglophonic Dysplasia	Respiratory distress, Inguinal hernia, Severe short stature, Rhizomelia, Camptodactyly of finger,...	OMIM:166250
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholesterolemia, Micropenis	OMIM:619471
Livedoid Vasculopathy	Ecchymosis, Skin ulcer, Macular purpura	ORPHA:542643
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal eyelash morphology, White hair, Skin ulcer, Prema...	ORPHA:1775
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum	ORPHA:486
Gabriele-De Vries Syndrome	Waddling gait, Dystonia, Posteriorly rotated ears, Small for gestational age, Decreased response ...	ORPHA:506358
Incontinentia Pigmenti	Alopecia, Supernumerary nipple, Abnormal hair morphology, Erythema, Skin ulcer, Dystrophic toenail	ORPHA:464
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova...	ORPHA:1359
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period...	ORPHA:91347
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Conductive hearing impairment, Micropenis, Simple ear, Hypo...	OMIM:201750
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Sparse hair, Tall stature	ORPHA:3474
East Syndrome	Polydipsia, Salt craving	ORPHA:199343
Beta-Thalassemia Major	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Hereditary Acrokeratotic Poikiloderma	Erythema, Skin ulcer, Nail dystrophy, Dystrophic fingernails, Dystrophic toenail	ORPHA:2907
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia	OMIM:304800
Meige Disease	Skin ulcer	ORPHA:90186
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia, Neonatal death, Hyperglycemia, Failure to...	OMIM:124000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia...	OMIM:619321
Familial Hyperaldosteronism Type Iii	Polydipsia	ORPHA:251274
Desbuquois Dysplasia 2	Postnatal growth retardation, Truncal obesity, Severe short stature, Intrauterine growth retardation	OMIM:615777
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Papillary thyroid carcinoma	OMIM:118450
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Glycogen Storage Disease Ib	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty	OMIM:232220
17Q24.2 Microdeletion Syndrome	Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test...	ORPHA:529962
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Carpenter Syndrome 2	Posteriorly rotated ears, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Sensori...	OMIM:614976
Nephronophthisis 3	Polydipsia	OMIM:604387
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Granulomatosis With Polyangiitis	Skin ulcer, Weight loss	OMIM:608710
Hajdu-Cheney Syndrome	Synophrys, Low anterior hairline, Dry skin, Skin ulcer, Coarse hair, Failure to thrive, Generaliz...	ORPHA:955
Catastrophic Antiphospholipid Syndrome	Skin ulcer	ORPHA:464343
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca...	ORPHA:2526
Pgm3-Cdg	Failure to thrive, Skin ulcer	ORPHA:443811
Chronic Granulomatous Disease	Skin ulcer	ORPHA:379
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Chronic Thromboembolic Pulmonary Hypertension	Elevated circulating C-reactive protein concentration, Edema, Obesity, Increased HDL cholesterol ...	ORPHA:70591
Bardet-Biedl Syndrome 12	Obesity	OMIM:615989
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Respiratory insufficiency, Disproportionate short-limb short stature, Hydrops fetalis	ORPHA:93271
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr...	ORPHA:2769
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Posteriorly rotated ears, Hypospadias, Short stature, Cryptorchidism, Sensorineura...	OMIM:309580
Schinzel-Giedion Syndrome	Respiratory distress, Inguinal hernia, Failure to thrive in infancy, Generalized hypertrichosis, ...	ORPHA:798
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:223
Leptospirosis	Respiratory distress, Pericarditis, Skin rash, Hepatitis, Uveitis, Optic neuritis, Cough, Pleural...	ORPHA:509
Nephronophthisis 1	Polydipsia	OMIM:256100
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Dermatomyositis	Abnormal hair quantity, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:221
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Acral ulceration, Nail dystrophy	OMIM:256800
Primary Unilateral Adrenal Hyperplasia	Polydipsia	ORPHA:231580
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress	OMIM:123790
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Atrioventricular canal defect, Short stature, Polyhydramnios	OMIM:617088
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Short stature, Polyhydramnios, Renal hypoplasia, Obesity, Pse...	OMIM:617157
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive	OMIM:615574
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration	ORPHA:565612
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Hypertrichosis	ORPHA:2330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Sensorineural hearing impairment, Protruding ear, Truncal obesity, Self-injurious behavio...	OMIM:612474
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Ulbright-Hodes Syndrome	Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc...	ORPHA:3404
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Short stature, Moderately short stature, Ena...	OMIM:119600
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Long ear, Self-m...	ORPHA:293948
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Purpura	ORPHA:761
Pallister-Killian Syndrome	Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhydramnios, Flexion contracture...	OMIM:601803
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Conductive hearing impairment, Disproportionate short-limb short stature, Obesity	OMIM:250420
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Glycogen Storage Disease Ic	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty	OMIM:232240
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Failure to thrive	OMIM:617527
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia	ORPHA:369929
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Sparse eyelashes, Sparse ...	OMIM:614748
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Decreased body weight	OMIM:615273
Leukocyte Adhesion Deficiency, Type I	Skin ulcer	OMIM:116920
Ulnar-Mammary Syndrome	Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra...	OMIM:181450
Nephronophthisis 11	Polydipsia	OMIM:613550
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Apparent Mineralocorticoid Excess	Polydipsia	ORPHA:320
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabet...	ORPHA:1578
Systemic Sclerosis	Alopecia, Acral ulceration, Digital ulcer	ORPHA:90291
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Curly hair, 1-minute APGAR score of 1, Short stature, 5-minute APGAR score ...	ORPHA:480880
Doors Syndrome	Thickened nuchal skin fold, Respiratory distress, Abnormal placental membrane morphology, Polyhyd...	ORPHA:79500
Granulomatosis With Polyangiitis	Purpura, Skin ulcer, Weight loss	ORPHA:900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin ulcer, Purpura	OMIM:615688
Fusariosis	Skin ulcer	ORPHA:228119
Wiskott-Aldrich Syndrome	Petechiae, Skin ulcer, Purpura	ORPHA:906
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Limitation of joint mobility, Osteoarthritis, Ectopic ossif...	ORPHA:2762
Tako-Tsubo Cardiomyopathy	Obesity, Pulmonary edema, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide co...	ORPHA:66529
Sweet Syndrome	Skin vesicle, Pyoderma gangrenosum	ORPHA:3243
Simple Cryoglobulinemia	Purpura, Acral ulceration, Weight loss	ORPHA:91139
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Cardiac rhabdomyoma, Shagreen patch	ORPHA:805
Malakoplakia	Skin ulcer	ORPHA:556
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Salt craving	OMIM:612780
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Renal Hypoplasia	Polydipsia	ORPHA:93101
Chronic Graft Versus Host Disease	Alopecia, Erythema, Skin ulcer, Weight loss, Nail dystrophy, Skin vesicle	ORPHA:99921
Senior-Boichis Syndrome	Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:84081
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short stature, Secundum atrial septal defect, ...	ORPHA:99646
Helix Syndrome	Polydipsia	OMIM:617671
Amoebiasis Due To Free-Living Amoebae	Skin ulcer	ORPHA:68
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Skin ulcer, Cachexia	ORPHA:2072
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Panhypophysitis	Polydipsia	ORPHA:95513
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Acral ulceration, Sparse bo...	ORPHA:548
Blau Syndrome	Skin ulcer	OMIM:186580
Gitelman Syndrome	Polydipsia, Salt craving	OMIM:263800
Primary Sjögren Syndrome	Dry skin, Skin ulcer, Purpura	ORPHA:289390
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Oligomeganephronia	Polydipsia	ORPHA:2260
Blau Syndrome	Erythema, Dry skin, Skin ulcer	ORPHA:90340
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa...	ORPHA:567983
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart mo...	ORPHA:438213
Mazabraud Syndrome	Fibrous dysplasia of the bones, Recurrent fractures	ORPHA:57782
Hypomagnesemia 3, Renal	Polydipsia	OMIM:248250
Erdheim-Chester Disease	Polydipsia	ORPHA:35687
Wolfram Syndrome	Polydipsia	ORPHA:3463
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia	ORPHA:93111
Distal Renal Tubular Acidosis	Polydipsia	ORPHA:18
Arima Syndrome	Polydipsia	OMIM:243910
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hypertrichosis	ORPHA:573278
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Exaggerated startle response, Ventricular septal defect	OMIM:619522
Proximal Renal Tubular Acidosis	Polydipsia	ORPHA:47159
Autosomal Recessive Polycystic Kidney Disease	Polydipsia	ORPHA:731
Bartter Syndrome, Type 2, Antenatal	Polydipsia	OMIM:241200
Mccune-Albright Syndrome	Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm...	OMIM:174800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gnas

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gnas.

No publications found that use IMPC mice or data for Gnas.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gnas^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us