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Gene: C1qtnf1 MGI:1919254

Gene Summary

Name:

C1q and tumor necrosis factor related protein 1

Synonyms:

1600017K21Rik, CTRP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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
abnormal liver morphology	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged cecum	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged kidney	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	C1qtnf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating cholesterol level	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	2.94×10^-07
abnormal spleen morphology	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
microphthalmia	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased circulating HDL cholesterol level	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	2.90×10^-06
abnormal lymph node morphology	C1qtnf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating triglyceride level	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	7.02×10^-05
abnormal kidney morphology	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal startle reflex	C1qtnf1^em1(IMPC)Mbp	HOM	Middle aged adult	5.95×10^-08
decreased locomotor activity	C1qtnf1^em1(IMPC)Mbp	HOM	Early adult	1.38×10^-05
abnormal ovary morphology	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal cecum morphology	C1qtnf1^em1(IMPC)Mbp	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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XRay Images Whole Body Lateral Orientation

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XRay Images Whole Body Dorso Ventral

51 Images

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XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by C1qtnf1 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 C1qtnf1 (0 diseases)
Human diseases predicted to be associated with C1qtnf1 (1226 diseases)

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

The table below shows human diseases predicted to be associated to C1qtnf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hirsutism, Reduced subcutaneous ad...	OMIM:612526
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-...	OMIM:613877
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, M...	OMIM:604367
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Hypercholesterolemia, Obesity, Type II diabetes mellitus, Insulin resistanc...	OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus,...	ORPHA:79084
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys...	ORPHA:79085
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hepatomegaly, Hyperinsulinemia, Hyper...	ORPHA:363400
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	ORPHA:435660
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia...	ORPHA:293964
Obesity And Hypopigmentation	Hyperinsulinemia, Red hair, Polyphagia, Obesity, Hepatic steatosis	OMIM:620195
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete...	ORPHA:436182
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature...	OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Lipodystrophy, Abdominal obesity, Insulin resistance, Diabetes mellitus, Hepatic ...	OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1	ORPHA:140941
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis, Insulin resistance, Generalized hirsutism	ORPHA:79087
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab...	ORPHA:324575
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:614480
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ...	OMIM:615238
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo...	ORPHA:435651
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli...	ORPHA:411593
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male...	OMIM:615381
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from upper limbs...	OMIM:608709
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperp...	ORPHA:276580
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, E...	OMIM:607765
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Precocious puberty in female...	ORPHA:528
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	OMIM:608600
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Increased intramuscular fat, Hepatomegaly, Loss of truncal subcutaneous adi...	OMIM:151660
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure	OMIM:261650
Mandibuloacral Dysplasia	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L...	ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Agitation, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperp...	ORPHA:276575
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh...	ORPHA:276608
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Loss...	ORPHA:79083
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Kerion Celsi	Lymphadenopathy	ORPHA:499
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu...	ORPHA:2348
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr...	OMIM:606762
Diarrhea 13	Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, Re...	OMIM:620357
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Cleft palate, Hyperec...	OMIM:613885
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemi...	ORPHA:543
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Panniculitis, Hepatomegaly, Hyperinsu...	ORPHA:79086
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance	ORPHA:369873
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, E...	OMIM:232220
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Agitation, Hepatomegaly, Large for gestational age, Diffuse pancreatic isl...	ORPHA:276556
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis, Lipodystrophy	OMIM:246650
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating hepatic t...	OMIM:616829
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Accumulation of lipid droplets in small-bowel enterocytes, Decr...	OMIM:246700
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercho...	ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h...	OMIM:617872
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Low anterior hairline, Dorsocervical fat pad, Hyperinsulinemi...	OMIM:616033
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption, Hypocholesterolemia	OMIM:614338
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome...	ORPHA:79237
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Hyperinsulinism-Hyperammonemia Syndrome	Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia...	ORPHA:35878
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Hepa...	OMIM:606069
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca...	OMIM:608612
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Enlarged kidney, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly, Median cleft palate	ORPHA:2432
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Mody	Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancre...	ORPHA:552
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of...	ORPHA:280365
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	OMIM:615558
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Splenomegaly, Hypoalbuminemia, Hypocholestero...	OMIM:608776
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Insulinoma	Hyperinsulinemia, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Increased body weight, ...	ORPHA:97279
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele...	OMIM:619048
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613327
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia, Polyphagia	OMIM:618406
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis	ORPHA:26792
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin...	ORPHA:369
Seckel Syndrome 10	Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin...	OMIM:617253
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:618400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Elevated circulating...	OMIM:266510
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Glycogen Storage Disease Ia	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, E...	OMIM:232200
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:269700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce...	OMIM:262190
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Hypoplasia of the small intestine, Ascites...	OMIM:200995
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fi...	ORPHA:79259
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis,...	ORPHA:210548
Perlman Syndrome	Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia	ORPHA:2849
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Familial Multiple Lipomatosis	Insulin resistance, Increased adipose tissue, Hyperlipidemia, Lipodystrophy	ORPHA:199276
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limb...	OMIM:248370
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation...	OMIM:300635
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg...	OMIM:278000
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619386
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty...	OMIM:246200
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Increased circulating cortisol level, Macronodular adre...	ORPHA:189427
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Hypertriglyceridemia 1	Hypertriglyceridemia, Hypopituitarism, Glucose intolerance	OMIM:145750
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Insulin-Resistance Syndrome Type B	Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H...	ORPHA:2298
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Increased hepatocellular li...	ORPHA:71
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly, Abnormal small intest...	ORPHA:100025
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Redu...	ORPHA:158057
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep...	ORPHA:209902
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Squalene Synthase Deficiency	Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, Elevated urine...	OMIM:618156
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular...	OMIM:613490
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hyperactivity	OMIM:615924
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra...	ORPHA:71212
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv...	ORPHA:300536
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circu...	OMIM:603471
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,...	OMIM:605911
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Hepatomegaly, Cirrhosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f...	OMIM:602579
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H...	ORPHA:79319
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Intestinal malrotation, Cleft palate, Cryptorchi...	OMIM:615524
Citrullinemia Type Ii	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Panc...	ORPHA:247585
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas...	OMIM:613313
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Very long chain...	OMIM:264470
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Jaundice, Hyperlipidemia, Acute pancreatitis, Decreased body weight, Failur...	ORPHA:444490
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Low posterior hairline, Failure to thrive, Low anterior hairline, Hypogonadism, At...	ORPHA:73272
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Potocki-Lupski Syndrome	Gastroesophageal reflux, Oral-pharyngeal dysphagia, Abnormal renal morphology, High palate, Hypoc...	OMIM:610883
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Hepatomegaly, Micropenis, Hydrocele testis	OMIM:618810
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Increased urine harderoporphyrin level, Increased...	OMIM:618892
Cat-Eye Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Anal atresia, Hydronephrosis, Abnormal localization of ...	ORPHA:195
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He...	OMIM:619013
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Hepatomegaly, Hypercholesterolemia, Acute pancreatitis, Hypoth...	ORPHA:412
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, D...	ORPHA:168569
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hyperammonemia, Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinin...	ORPHA:449395
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Le...	ORPHA:64743
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity	OMIM:620639
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevat...	ORPHA:264580
Gombo Syndrome	Microphthalmia	OMIM:233270
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:261680
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:79301
Aromatase Deficiency	Hyperlipidemia, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Generalized hirsutism...	ORPHA:91
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ...	ORPHA:101330
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Volvulus, R...	ORPHA:335
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepatic steatosis, Reduced muscle carnitin...	OMIM:212140
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Nail dystrophy, Generalized lipodystrophy, Abnormal hair morphology, Hyperlipide...	ORPHA:90154
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Hydronephrosis, Ure...	OMIM:314390
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Cerebrooculofacioskeletal Syndrome 1	Hirsutism, Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee...	OMIM:214150
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubu...	OMIM:212065
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ...	ORPHA:2547
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Cirrhosis, Decreased circulating prealbumin concentration, Reduced circul...	ORPHA:90363
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Cleft palate, Nephrogenic rest, ...	OMIM:608022
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep...	ORPHA:2088
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic tra...	ORPHA:858
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia ...	ORPHA:85284
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Leprechaunism	Rectal prolapse, Hepatomegaly, Enlarged kidney, Clitoral hypertrophy, Hypokalemia, Long penis, Hy...	ORPHA:508
Short Syndrome	Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H...	OMIM:269880
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Hypopigmentation of hair, Failure to thrive, Dysphagia, Hepatic steatosis	ORPHA:70472
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai...	OMIM:615363
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis	OMIM:601466
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i...	OMIM:606721
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia, Villous atrophy	OMIM:615863
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Hypogonadism	ORPHA:2528
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cyst, ...	OMIM:618188
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h...	OMIM:615438
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Protein...	ORPHA:251004
19P13.12 Microdeletion Syndrome	Hyperactivity, Hyperlipidemia, Synophrys, Hypothyroidism, Precocious puberty, Obesity, Generalize...	ORPHA:254346
Rabson-Mendenhall Syndrome	Premature graying of hair, Polydipsia, Increased serum testosterone level, Thick hair, Fasting hy...	ORPHA:769
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic trans...	OMIM:235555
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Alstrom Syndrome	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Elevat...	OMIM:203800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intestinal malrotation, Cleft palate,...	OMIM:613091
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Short Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Sparse hair, Weight loss, Insu...	ORPHA:3163
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Intestinal malrotation, Peri...	ORPHA:2538
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati...	ORPHA:79303
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Anal atresia, Horseshoe kidney	OMIM:619318
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis, Hypogonadism	OMIM:615996
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep...	OMIM:231530
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormally large globe, Abnormal fallopian tube morphol...	ORPHA:1655
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Dec...	ORPHA:96180
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Hematuria	OMIM:120433
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, High palate, Renal hypoplasia, Ketonuria	OMIM:619053
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicular hepatic ste...	OMIM:600649
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Cirrhosis, Hepatic steatosis	ORPHA:209919
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Ascites, Ankyloglossia, Asplenia, Hypoplastic spleen, Mic...	OMIM:602361
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate	OMIM:616570
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Absent eyelashes, Hyperlipidemia, Abnormal eyebrow morphology, Flexion contractur...	ORPHA:90153
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal...	ORPHA:75233
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Decreased HDL cholesterol concentration, Hypotrigly...	ORPHA:14
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio...	ORPHA:2959
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Smal...	OMIM:270400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate	OMIM:603194
Adams-Oliver Syndrome 6	Esophageal varix, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis	OMIM:616589
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Splenomegaly...	OMIM:261750
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Biemond Syndrome Type 2	Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Prader-Willi Syndrome	Hypertriglyceridemia, Delayed puberty, Decreased response to growth hormone stimulation test, Hyp...	OMIM:176270
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,...	ORPHA:84081
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Thrombocytopenia, Leuko...	ORPHA:505248
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Increased circulating iron concentration, Splenomegaly, Inc...	OMIM:602390
Monosomy 13Q34	Horizontal eyebrow, Insulin resistance, Obesity, Hepatic steatosis	ORPHA:96168
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, High palate, Decreased testicular size, Hydronephrosis, Cryptorchid...	OMIM:619185
Werner Syndrome	Premature graying of hair, Lipoatrophy, Thyroid carcinoma, Sparse scalp hair, White forelock, Sle...	ORPHA:902
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Nephrotic syndrome, Splenomegaly, Con...	OMIM:269920
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:369840
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:201450
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port...	OMIM:605814
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ...	OMIM:619418
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Hypoplasia of the ov...	ORPHA:79328
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Splenomegaly, Multiple renal c...	ORPHA:116
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele...	OMIM:614582
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Ataxia, Splenomegaly, Lymphadenopathy	ORPHA:391
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Hepatomegaly, Hypothyroidism, Failure to thrive, Diabetes mellitus,...	OMIM:616263
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypo...	OMIM:617666
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia, Anal atresia	ORPHA:3469
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count...	OMIM:619802
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Hypoglycemia, Elevated circulating ...	OMIM:617093
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Nanophthalmos	Microphthalmia	ORPHA:35612
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph...	ORPHA:397596
Whipple Disease	Polydipsia, Anorexia, Hepatomegaly, Cachexia, Hypothyroidism, Splenomegaly, Insulin resistance	ORPHA:3452
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Meckel Syndrome, Type 5	Microphthalmia, Cleft palate, Renal cyst, Bile duct proliferation	OMIM:611561
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Microphthalmia, Biliary atresia, Meckel diverticulum, Vesicoureter...	OMIM:115470
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen...	OMIM:617914
Atypical Werner Syndrome	Premature graying of hair, Lipoatrophy, Hypertriglyceridemia, Delayed puberty, White forelock, Ab...	ORPHA:79474
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasi...	ORPHA:290
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Isolated Biliary Atresia	Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he...	ORPHA:30391
Estrogen Resistance Syndrome	Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	ORPHA:98908
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Pr...	OMIM:175200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Hepatic stea...	OMIM:201475
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Median cleft palate, Microphallus, Hyperechogenic kidneys, Small sc...	OMIM:612651
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Microphthalmia, Unilateral renal agenesis, Gastroesophageal reflux, Renal hy...	OMIM:618494
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:228305
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Decreased liver function, Jaundice, Hepatomegaly...	ORPHA:540
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Hypospadias, Gastroesophageal reflux, B ...	ORPHA:79324
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Posteriorly placed anus, Polysplenia, Asplenia, A...	OMIM:306955
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr...	ORPHA:247598
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Gastroesophageal reflux, High palate, Hypocholester...	OMIM:223370
Fryns Microphthalmia Syndrome	Unicornuate uterus, Bilateral cleft palate, Microphthalmia, Anophthalmia	OMIM:600776
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Elevated...	OMIM:614921
Adrenomyodystrophy	Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis	ORPHA:977
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Mosaic Trisomy 9	Microphthalmia, Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli...	ORPHA:3464
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato...	ORPHA:298
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Hypoglycemia, Failure to thrive	OMIM:210200
Gracile Syndrome	Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis	ORPHA:53693
2Q24 Microdeletion Syndrome	Microphthalmia, Cleft palate	ORPHA:1617
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Nanophthalmos 4	Microphthalmia	OMIM:615972
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr...	ORPHA:98907
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney, Microglossia	OMIM:606744
Dpm1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Camptodactyly, Failure to ...	ORPHA:79322
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, H...	OMIM:243605
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pylor...	ORPHA:381
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Fanconi Anemia, Complementation Group R	Microphthalmia, Anemia, Pelvic kidney, Anal atresia, Bone marrow hypocellularity	OMIM:617244
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic...	ORPHA:541423
Fanconi Anemia, Complementation Group F	Microphthalmia, Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Ves...	OMIM:603467
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Trisomy 13	High, narrow palate, Microphthalmia, Anophthalmia, Abnormality of the ureter, Cleft palate, Hydro...	ORPHA:3378
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:240500
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:212138
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Immunodeficiency 27A	Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly	OMIM:209950
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Bardet-Biedl Syndrome 1	Hirsutism, Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Hypogonadism, Abdo...	OMIM:209900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia, Hematuria	ORPHA:1473
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Failure to thri...	ORPHA:99901
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia, Aganglionic megacolon, Renal hypoplasia/aplasia	ORPHA:1438
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate	OMIM:600251
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero...	OMIM:300972
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome...	ORPHA:848
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Spleno...	OMIM:252500
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live...	ORPHA:69663
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep...	OMIM:620454
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden...	OMIM:602450
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Alopecia	OMIM:275630
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Biliary cirrhosis, Ascites, S...	ORPHA:186
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Failur...	OMIM:614300
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent...	OMIM:611126
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Gitelman Syndrome	Delayed puberty, Polydipsia, Neoplasm of the pancreas, Maternal diabetes, Graves disease, Hashimo...	ORPHA:358
Oculocerebrocutaneous Syndrome	Microphthalmia, Cleft palate, Cryptorchidism, Anophthalmia	OMIM:164180
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Papillorenal Syndrome	Microphthalmia, Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesic...	OMIM:120330
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Hypocalcemia, Pancreatic lymphangiectasis, High palate,...	OMIM:235255
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Esophageal atresia, Hypoplasia of penis, Anophthalmia, Tracheoesopha...	ORPHA:77298
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Hypocalcemia, Cryptorchidism, Mucopolys...	OMIM:618440
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Hepatic steatosis	OMIM:231680
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Silver-Russell Syndrome	Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr...	ORPHA:813
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Ectopic anus, Vesico...	ORPHA:2059
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas...	ORPHA:348
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Cleft palate, High palate, Hypogonadotropic hypogonadism	ORPHA:1135
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Inguinal hernia, Brittle hair, Failure to thrive, Hepatic steatosis	OMIM:236200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Macroglossia, Elevated circulating creatine kinase concentration	OMIM:613155
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Decreased HDL cholester...	ORPHA:77259
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Fanconi Anemia, Complementation Group I	Microphthalmia, Decreased response to growth hormone stimulation test, Abnormal renal morphology,...	OMIM:609053
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph...	OMIM:275000
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Marden-Walker Syndrome	High, narrow palate, Microphthalmia, Hypospadias, High palate, Pyloric stenosis, Renal hypoplasia...	OMIM:248700
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Hypothyroidism, Sparse hair, Insulin resistance, Diabetes mellitus, Truncal obesity	OMIM:616541
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Microphthalmia, Beta-alaninuria, H...	OMIM:614105
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Microphthalmia, Syndromic 8	Microphthalmia, Cleft palate, Cryptorchidism	OMIM:601349
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Ogden Syndrome	Narrow palate, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemi...	OMIM:300855
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism	OMIM:619273
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly	ORPHA:2584
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Meckel Syndrome, Type 4	Microphthalmia, Cleft palate, Renal cyst, Bile duct proliferation	OMIM:611134
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, High palate, Intestinal malrotation, Hypocholesterolemia, Hypoplastic labia...	OMIM:244450
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Biliary tract abnormality, Microphthalmia	ORPHA:3191
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Argininuria, Decreased HDL cholesterol concentration, Decrease...	ORPHA:470
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Esophageal atresia, Ectopic kidney, Pancytopenia, Dupli...	OMIM:227646
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Meckel Syndrome	Microphthalmia, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Anophthalmi...	ORPHA:564
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Schnitzler Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37748
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration...	OMIM:615486
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal...	OMIM:619487
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyom...	OMIM:617100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic calcification, Hepatic steatosis,...	ORPHA:228308
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesi...	OMIM:616395
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Microphthalmia, Leukemia	OMIM:602501
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina...	ORPHA:445038
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Lysosomal Acid Lipase Deficiency	Decreased liver function, Xanthelasma, Steatorrhea, Hypertriglyceridemia, Elevated circulating he...	ORPHA:275761
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Bile Acid Malabsorption, Primary, 2	Steatorrhea, Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Pr...	OMIM:619481
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Nephrolithiasis, Decreased level of plasminog...	ORPHA:722
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Bicornuate uterus, ...	OMIM:601186
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Ectopic kidney, Acute myeloid leukemia, Unilateral renal agenesi...	OMIM:610832
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal rena...	OMIM:227650
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Esophageal atresia, Unilateral renal agenesis, Aplasia of the uterus, Tra...	OMIM:614083
Fanconi Anemia, Complementation Group S	Narrow palate, Microphthalmia, Ovarian neoplasm, Anemia, Ovarian carcinoma	OMIM:617883
Scrub Typhus	Lymphadenopathy, Splenomegaly, Lethargy	ORPHA:83317
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Meckel diverticulum, Intestinal malrotation, Splenomegaly, Duplication of renal ...	OMIM:312870
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Kapur-Toriello Syndrome	Intestinal malrotation, Microphthalmia, Hypoplastic labia majora, Hypoplasia of penis	ORPHA:2328
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:600901
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Diffuse hepatic steatosis	ORPHA:436271
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Immunodeficiency 54	Lymphadenopathy, Splenomegaly	OMIM:609981
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Ureteral duplication, Esophageal atresia, Hypospadias, Mec...	OMIM:229850
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Pearson Syndrome	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased res...	ORPHA:699
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture	OMIM:616271
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypoketotic hypoglycemia, Chronic hepatic failure, Cholestasis, Failure to th...	ORPHA:746
Moebius Syndrome	Microphthalmia, High palate, Decreased testicular size, Bifid uvula, Dysphagia, Micropenis, Hypog...	OMIM:157900
Steinert Myotonic Dystrophy	Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H...	ORPHA:273
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Retinitis Pigmentosa	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Pallister-Hall Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidne...	OMIM:146510
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Con...	OMIM:241410
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,...	ORPHA:562
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Intestina...	ORPHA:90038
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he...	ORPHA:66634
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me...	OMIM:618394
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Hyperactivity, Hirsutism, Synophrys, Splenomegaly, Umbilical herni...	OMIM:252900
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate, Cryptorchidism, Micropenis, E...	OMIM:610125
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of end...	ORPHA:93111
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ...	ORPHA:96182
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux	ORPHA:2414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy	OMIM:613153
Niemann-Pick Disease, Type A	Lymphadenopathy, Inability to walk, Athetosis, Splenomegaly	OMIM:257200
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Gastroesophageal reflux, Vesicoureteral reflux, Dysphagia, Cryptorch...	ORPHA:494344
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Braddock-Carey Syndrome 2	Microphthalmia, Cleft palate, Thrombocytopenia	OMIM:619981
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, A...	OMIM:617600
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, Intestinal malrotation, Splenomegaly, Cystic renal dys...	OMIM:249000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa...	OMIM:617156
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Anal atresia, Vaginal atresia, Cryptorchidism, Multicystic...	ORPHA:3301
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enlarged kidney, Decreased response to growth hormone stimulation test, Gast...	OMIM:615873
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nep...	ORPHA:500095
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Splenomegaly	OMIM:607594
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Cleft palate, Micropenis, Cryptorchidism, Abnormality of ...	OMIM:244300
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, High palate, Clitoral hypoplasia, ...	ORPHA:2510
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute ...	ORPHA:20
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He...	OMIM:606003
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Lissencephaly 8	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Anal atresia, Asplen...	OMIM:273395
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Increased circulat...	OMIM:610768
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Nail dystrophy, Generalized lipodystrophy, Elevated circulating hepatic tra...	OMIM:619127
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Macroglossia, Ascites	OMIM:261740
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Medial flaring of the eyebrow, Elevated ci...	ORPHA:110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:615181
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Renal agenesis, Cleft palate, Hypoplasia of...	ORPHA:247768
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Hydrolethalus	Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Bifid uvula, Cleft palate, Subm...	ORPHA:2189
Fanconi Anemia	Microphthalmia, Renal hypoplasia/aplasia, Meckel diverticulum, Abnormal renal morphology, Tracheo...	ORPHA:84
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-b...	OMIM:277900
Refsum Disease	Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Weight los...	ORPHA:2126
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, B...	OMIM:124000
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:227645
Bloom Syndrome	Patchy alopecia, Sparse eyelashes, Adipose tissue loss, Abdominal obesity, Insulin resistance, Di...	ORPHA:125
Duane-Radial Ray Syndrome	Microphthalmia, Aganglionic megacolon, Anal stenosis, Optic disc hypoplasia, Vesicoureteral reflu...	OMIM:607323
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:881
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Lymphadenopathy, Asplenia	OMIM:614034
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Dysph...	OMIM:612379
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Flexion...	ORPHA:17
Pseudotrisomy 13 Syndrome	Microphthalmia, Bicornuate uterus, Median cleft palate, Anal atresia, Renal agenesis, Renal hypop...	OMIM:264480
Nephroblastoma	Lymphadenopathy	ORPHA:654
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Agenesis of pineal gland	OMIM:614402
17Q12 Microduplication Syndrome	Microphthalmia, Cleft palate, Tracheoesophageal fistula	ORPHA:261272
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal gastrointestinal tract morphology, Intestinal malrotation, Bifid uvula, ...	ORPHA:404440
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Gastritis, Villous atrophy, Abnormality of iron homeostasis, Polycystic ...	ORPHA:84064
Adams-Oliver Syndrome	Cirrhosis, Gastrointestinal hemorrhage, Microphthalmia, Esophageal varix, Ascites, Portal hyperte...	ORPHA:974
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly, Hepatocellular carcinoma,...	ORPHA:465508
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Hypoparathyr...	ORPHA:231226
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Hepatomeg...	ORPHA:829
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Increased intramyocellular...	OMIM:220110
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Abnormality of iron homeostasis, Hy...	OMIM:222470
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Clitoral hypertrophy, Hypospadias, Gastroesophageal reflux, High palate, Furrowed...	OMIM:616449
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Hepatic steatosis	OMIM:614922
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Cleft palate, Proteinuria, Small scrotum, Cryptorch...	ORPHA:2728
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Osteootohepatoenteric Syndrome	Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Fail...	OMIM:619377
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Gastroesophageal reflux, Hypokalemia, Hypocalcemia, High palate, Renal artery stenosi...	OMIM:617913
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Increased total iron binding capacity, Elevated circulating hepatic trans...	ORPHA:309854
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor...	ORPHA:100026
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism, Bifid uvula, Cleft palate, Sub...	ORPHA:899
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal intestine morphology, Splenomeg...	ORPHA:37042
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Hartsfield Syndrome	Microphthalmia, Cleft palate	ORPHA:2117
Vacterl With Hydrocephalus	Microphthalmia, Renal hypoplasia/aplasia, Esophageal atresia, Abnormal fallopian tube morphology,...	ORPHA:3412
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Warburg Micro Syndrome 3	Narrow palate, Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum...	OMIM:614222
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Microphthalmia, Lens coloboma	OMIM:618914
Bloom Syndrome	Small for gestational age, Hepatic steatosis, Type II diabetes mellitus, Hypertrichosis	OMIM:210900
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Cleft palate, Abnormal scrotum morphology, Small scrotum, Cryptorchi...	ORPHA:2505
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, High palate, Bifid scrotum, Anal atresia,...	OMIM:619148
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, High palate, Nephrotic syndrome, Proteinuria, Hypoalbuminem...	OMIM:617729
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit...	ORPHA:231214
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing...	OMIM:613658
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro...	OMIM:261515
Degcags Syndrome	Microphthalmia, Cholestasis, Abnormal spleen morphology, Leukopenia, Congenital hypoplastic anemi...	OMIM:619488
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen...	OMIM:620005
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d...	OMIM:620185
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Crohn's disease, Leukocytosi...	OMIM:249100
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Roifman Syndrome	Lymphadenopathy, Splenomegaly	OMIM:616651
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Anal atre...	OMIM:309801
Roifman Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Fructose Intolerance, Hereditary	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Glyco...	OMIM:229600
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, A...	ORPHA:2166
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:3226
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr...	OMIM:614924
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperpho...	OMIM:239200
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cleft palate, High palate, Oligosacchariduria	ORPHA:163649
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein...	ORPHA:90051
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Lymph node hypoplasia, Splenomegaly	OMIM:613179
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, male, Precocious puberty in females, Aplasia of the uterus, Bifid scrotum, D...	ORPHA:90793
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intestinal polyposis, Stomach cancer, Ascites, Vaginal neoplasm, Acute lymphoblas...	ORPHA:1052
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Sparse hair	OMIM:620601
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ...	OMIM:619525
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Frontonasal Dysplasia 1	Microphthalmia, Median cleft palate	OMIM:136760
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Calcinosis, Elevated circulatin...	OMIM:613471
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis	OMIM:243310
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate	OMIM:614526
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Anophthalmia, Vaginal atresia, Anteriorly placed anus	OMIM:248450
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa...	ORPHA:95699
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotran...	OMIM:619573
Adams-Oliver Syndrome 5	Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism	OMIM:616028
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Cleft palate, Hepatic agenesis, Penile hypospad...	ORPHA:1692
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Sézary Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:3162
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Anal atresia, Renal cyst, Cryptorchidism, Renal hypoplasia, Cleft palate, Lobulat...	OMIM:616300
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Functional abnormality of the gastrointestinal trac...	ORPHA:29073
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Liver Disease, Severe Congenital	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Spl...	OMIM:619991
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Macroglossia, Elevated circulating creatine kinase concen...	ORPHA:370959
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste...	ORPHA:404454
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Cryptorchidism	OMIM:613001
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Lymphadenopathy	ORPHA:343
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, High palate, Anophthalmia	ORPHA:139471
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsiv...	OMIM:619475
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Galloway-Mowat Syndrome 1	Microphthalmia, High palate, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephroti...	OMIM:251300
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Microphthalmia, Gastroesophageal reflux	OMIM:611961
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Congenital hydrocele, ...	OMIM:620376
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Curry-Jones Syndrome	Intestinal malrotation, Microphthalmia	ORPHA:1553
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Anorectal anomaly, Intestinal malrotation, Splenomeg...	ORPHA:567
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Pyloric st...	OMIM:147791
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary ...	OMIM:612541
Systemic Sclerosis	Acute kidney injury, Abnormality of the kidney, Abnormality of the gastrointestinal tract, Gastro...	ORPHA:90291
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Nephrocalcinosis, Multiple renal cysts, Hyperaldosteronism, Hypophosphatemia, Hyp...	ORPHA:534
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Anal atresia, Uterus didelphys, Cleft palate, Absent gallbladder, Septate vagina,...	OMIM:617925
Microphthalmia, Lenz Type	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism	ORPHA:568
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Intellectual Developmental Disorder, Autosomal Dominant 68	Attention deficit hyperactivity disorder, Hepatic steatosis, Sparse hair, Joint contracture of th...	OMIM:619934
Primary Myelofibrosis	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, High palate, Renal cyst, R...	OMIM:608091
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Gastroesophageal reflux, El...	ORPHA:90324
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Leukocytosis...	ORPHA:342
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
American Trypanosomiasis	Lymphadenopathy, Splenomegaly	ORPHA:3386
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni...	ORPHA:454840
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Abnormal testis mor...	ORPHA:1775
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Ataxia, Splenomegaly	ORPHA:36412
Microphthalmia, Syndromic 3	Microphthalmia, Esophageal atresia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior p...	OMIM:206900
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Microphthalmia, Hypospadias, Cholelithiasis, Furrowed tongue, Cleft palate, ...	ORPHA:464738
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Bifid uvula, Clef...	ORPHA:2250
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Gastroesophageal reflux, High palate, Horseshoe kidney	ORPHA:65286
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Lymphadenopathy	OMIM:619644
Joubert Syndrome 14	Microphthalmia, Cleft palate, Renal cyst	OMIM:614424
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Fg Syndrome Type 1	Hypospadias, Gastroesophageal reflux, Small pituitary gland, Optic nerve hypoplasia, High palate,...	ORPHA:93932
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cleft palate, Cardiomegaly, Polycys...	ORPHA:137675
Holoprosencephaly	Microphthalmia, Gastroesophageal reflux, Hypoplasia of penis, Anophthalmia, Anterior hypopituitar...	ORPHA:2162
Trisomy 18	Narrow palate, Microphthalmia, Esophageal atresia, Anal atresia, Abnormality of the upper urinary...	ORPHA:3380
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, High palate, Unilateral cryptorchidism, Cleft palate	OMIM:206920
Legionnaires Disease	Bone marrow hypocellularity, Ataxia, Splenomegaly, Lymphadenopathy	ORPHA:549
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia	ORPHA:2717
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8(9)-cholestenol, Microphthalmia, Hydronephrosis, Elevated 8-dehydrocholesterol	OMIM:302960
Monosomy 18P	Microphthalmia, Cleft palate	ORPHA:1598
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Gastroesophageal reflux, Hypoplasia of the iris, Hydron...	ORPHA:2092
Acro-Renal-Ocular Syndrome	Microphthalmia, Aganglionic megacolon, Renal hypoplasia/aplasia, Optic disc hypoplasia, Vesicoure...	ORPHA:959
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypertriglyceridemia, Sparse hair, Hepatic steatosis, Decreased response to growth h...	ORPHA:3455
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Cystinosis, Nephropathic	Generalized aminoaciduria, Splenomegaly, Dysphagia, Hypophosphatemia, Stage 5 chronic kidney dise...	OMIM:219800
Castleman Disease	Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:160
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Sandestig-Stefanova Syndrome	Microphthalmia, High palate	OMIM:618804
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Macroglossia, High palate, Cryptorchidism	ORPHA:369891
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Oculofaciocardiodental Syndrome	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Microphthalmia	ORPHA:2712
Martsolf Syndrome 1	Microphthalmia, High palate, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Ohdo Syndrome, X-Linked	Microphthalmia, High palate, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis, Hiatus hernia	OMIM:300895
3P25.3 Microdeletion Syndrome	Pyloric stenosis, High, narrow palate, Cleft palate, Microphthalmia	ORPHA:435638
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Mevalonic Aciduria	Fluctuating splenomegaly, Progressive cerebellar ataxia, Lymphadenopathy, Ataxia, Hepatosplenomegaly	OMIM:610377
Bartsocas-Papas Syndrome 2	Bilateral cleft palate, Microphthalmia	OMIM:619339
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin 1, Elevated cir...	OMIM:263700
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Abnormality of the spleen	ORPHA:79456
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Gastroesophageal reflux, Vesicoureteral reflux, Hi...	OMIM:616975
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis, High palate	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Elevated circulating...	OMIM:236670
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Gastrointestinal stroma...	ORPHA:1572
Aggressive Systemic Mastocytosis	Hypersplenism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:98850
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, High palate, Cleft palate, Cryptorchidism, Supernumerary nipple	OMIM:612530
1Q21.1 Microdeletion Syndrome	Microphthalmia, Vesicoureteral reflux, High palate, Ankyloglossia, Hydronephrosis, Cryptorchidism	ORPHA:250989
Omenn Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:39041
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Macro...	OMIM:618874
Charge Syndrome	Microphthalmia, Tracheoesophageal fistula, Dysphagia, Lymphopenia, Decreased response to growth h...	OMIM:214800
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, High palate, Cleft palate, Cryptorchidism, Micropenis	OMIM:614230
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Hutchinson-Gilford Progeria Syndrome	Dystrophic fingernails, Severe failure to thrive, Loss of eyelashes, Pubertal developmental failu...	ORPHA:740
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Treacher-Collins Syndrome	Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Glossoptosis, Hypoplasia of the thymus...	ORPHA:861
1P36 Deletion Syndrome	Annular pancreas, Obesity, Polyphagia, Horizontal eyebrow, Camptodactyly of finger, Abnormal eyeb...	ORPHA:1606
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, High palate, Hypoplasia of penis	ORPHA:284160
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Splenomegaly	ORPHA:169090
Cockayne Syndrome	Microphthalmia, Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, Gastroesophageal r...	ORPHA:191
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoproteinemia, Hypoplasia of the iris, Nephroti...	OMIM:609049
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Cholestasis, Thyroid hypoplasia, Impulsivity, Dysphagia, Bruxism, Hepatic ...	OMIM:619503
Cinca Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:1451
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Heart And Brain Malformation Syndrome	High, narrow palate, Microphthalmia, Gastroesophageal reflux	OMIM:616920
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85450
Felty Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:47612
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Ectopic anus, High palate, Cleft palate	ORPHA:251038
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Fraser Syndrome	Microphthalmia, Anal stenosis, Renal hypoplasia/aplasia, Hypospadias, Anorectal anomaly, Hypoplas...	ORPHA:2052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:615356
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Bartsocas-Papas Syndrome 1	Microphthalmia, Anal stenosis, Ectopic kidney, Hypoplastic labia majora, Hypoplastic male externa...	OMIM:263650
Townes-Brocks Syndrome	Abnormality of the kidney, Microphthalmia, Ectopic kidney, Rectovaginal fistula, Hypoplasia of pe...	ORPHA:857
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, High, narrow palate, Cleft palate	OMIM:607597
Teebi-Shaltout Syndrome	High, narrow palate, Microphthalmia, Ureteral stenosis, Cleft palate, Hydronephrosis, Horseshoe k...	OMIM:272950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Hyperammonemia, Leukopenia,...	OMIM:222700
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Renal dysplasia, Microphthalmia, Cleft palate	OMIM:618571
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Cleft palate, Hydronephrosis, Microglossia, Ambiguous ...	OMIM:260660
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Anteriorly placed anus, Anal atresia	ORPHA:1352
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Temtamy Syndrome	Microphthalmia	OMIM:218340
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Highly arched eyebrow, Microvesicular hepatic steatosis, Hirsutism, Failure to t...	OMIM:220111
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hepatitis, Hypothyroidism, Splenomegaly, Weight loss, Hepatic steatosis	OMIM:615846
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Arima Syndrome	Polydipsia, Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:243910
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Cleft palate, Hydronephrosis, Microglossia, Ambiguous genitalia	ORPHA:2839
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite...	ORPHA:424
Steinfeld Syndrome	Microphthalmia, Unilateral renal dysplasia, Median cleft palate, Bifid uvula, Absent gallbladder	OMIM:184705
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Frontofacionasal Dysplasia	Microphthalmia, Cleft palate	ORPHA:1791
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate, Supernumerary nipple	OMIM:620098
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux	OMIM:120200
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Hypercholesterolemia, Elevated ...	OMIM:309000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi...	OMIM:300868
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Neuroblastoma	Ataxia, Lymphadenopathy, Antalgic gait	ORPHA:635
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Fraser Syndrome 1	Bilateral microphthalmos, Renal hypoplasia/aplasia, Clitoral hypertrophy, Hypospadias, Anophthalm...	OMIM:219000
Digeorge Syndrome	Inguinal hernia, Cholelithiasis, Hypoplasia of the thymus, Femoral hernia, Hypothyroidism, Obesit...	OMIM:188400
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal...	OMIM:306400
Solitary Median Maxillary Central Incisor	Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ...	OMIM:147250
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Hyperlipidemia,...	ORPHA:565612
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus	ORPHA:163746
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Microphthalmia, Hypogonadism	OMIM:601675
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Mediastinal lymphadenopathy, Lethargy	OMIM:620233
Curry-Jones Syndrome	Intestinal malrotation, Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction	OMIM:601707
Chediak-Higashi Syndrome	Lymphadenopathy, Ataxia, Splenomegaly, Gait disturbance	OMIM:214500
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis	OMIM:616260
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of the ovary, Flexion contracture, Abdominal obesity, Hepatic steatosis, Alopecia	OMIM:619321
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, High palate, Cleft palate, Cryptorchidism, Micropenis, Hypogonadotro...	OMIM:603457
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney, Tracheoesophageal fistula	ORPHA:268249
Hydrolethalus Syndrome 1	Microphthalmia, Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morpholo...	OMIM:236680
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly	OMIM:308230
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Renal agenesis, Renal hypopla...	ORPHA:508498
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
Mixed Connective Tissue Disease	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:809
Cohen Syndrome	High, narrow palate, Microphthalmia, Aplasia/Hypoplasia of the tongue, Cryptorchidism, Neutropenia	ORPHA:193
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Gastritis, Anoperineal fistula, Elevate...	OMIM:619381
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis	OMIM:618986
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Familial Gestational Hyperthyroidism	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite...	ORPHA:99819
Fetal Alcohol Syndrome	Microphthalmia, Cleft palate	ORPHA:1915
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Renal insufficiency, Hypoplasia of the iris, Proteinuria, Splenomeg...	OMIM:133540
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Elevated circulating creatine kinase concentration, Cleft palate, Buphthalmos, Ma...	OMIM:613150
Tay-Sachs Disease	Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response	ORPHA:845
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Cleft palate, High palate, Hypoplastic nipples	OMIM:156610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Roberts Syndrome	Microphthalmia, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, High palate, Cleft...	ORPHA:3103
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Gastroesophageal reflux, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, ...	OMIM:620186
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Aicardi Syndrome	Microphthalmia, Intestinal polyposis, Gastroesophageal reflux, Precocious puberty, Cleft palate, ...	ORPHA:50
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Ascites, Prolonged neonatal ja...	OMIM:619534
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia, Transient hypophosphatemia, Hypoparathyroidism, Hypocalcemia, Hyperphosph...	OMIM:127000
Okamoto Syndrome	Anal stenosis, Urinary incontinence, Gastroesophageal reflux, Abnormally large globe, Exaggerated...	ORPHA:2729
Hyper-Igd Syndrome	Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Waldenström Macroglobulinemia	Lymphadenopathy, Ataxia, Splenomegaly	ORPHA:33226
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Lymphadenopathy, Ataxia, Splenomegaly, Generalized lymphadenopath...	ORPHA:50918
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Elevated cir...	ORPHA:79318
Charge Syndrome	Microphthalmia, Gastroesophageal reflux, Abnormal soft palate morphology, Anophthalmia, Labial hy...	ORPHA:138
Mend Syndrome	Microphthalmia, High palate, Cleft palate, Elevated 8(9)-cholestenol, Cryptorchidism, Elevated 8-...	ORPHA:401973
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Failure to thrive, Hepatocellular necrosis, Hepat...	OMIM:618278
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Bilateral microphthalmos, Unilateral renal agenesis,...	ORPHA:468631
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, High palate, Hypogonadism, Cryptorchidism, Anteriorly placed anus	OMIM:268400
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Hypoplasia of the uterus, High palate, Increased circulating gonadotropin level	OMIM:110100
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Bifid uvula, Small scrotum, Hydrometrocolpos,...	ORPHA:672
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Basal Cell Nevus Syndrome 1	Microphthalmia, Hamartomatous stomach polyps, Ovarian fibroma, Cleft palate, Ovarian carcinoma	OMIM:109400
Frontorhiny	Hypopituitarism, Microphthalmia, Cleft palate, Bifid tongue	ORPHA:391474
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Supernumerary nipple, Aniridia, Anophthalmia, Labial hypopl...	OMIM:305600
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Phimosis, High palate, Anal atresia, Decreased testicular size, Rena...	OMIM:309500
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Hallermann-Streiff Syndrome	High, narrow palate, Microphthalmia, Glossoptosis, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Rodrigues Blindness	Microphthalmia	OMIM:268320
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, High palate, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Mic...	OMIM:609945
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Monosomy 9P	Microphthalmia, Hypospadias, High palate, Ureteropelvic junction obstruction, Cleft palate, Ambig...	ORPHA:261112
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, High palate, Cleft palate, Cryptorchidism, Horseshoe kidney	ORPHA:1106
Graft Versus Host Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Yunis-Varon Syndrome	High, narrow palate, Microphthalmia, Bilateral microphthalmos, Hypospadias, Clitoral hypertrophy,...	ORPHA:3472
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Gastroesophageal reflux, Anophthalmia, Duplication of internal organ...	OMIM:113620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Hallermann-Streiff Syndrome	Narrow palate, High, narrow palate, Microphthalmia, High palate, Cryptorchidism	OMIM:234100
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cleft palate, Cryptorchidism	ORPHA:251014
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele, Cleft palate, Small scrotum, Cryptorchidism	OMIM:616734
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Farber Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Microcephaly-Micromelia Syndrome	Microphthalmia, Cleft palate	OMIM:251230
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Poems Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:2905
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Aplasia of the epiglottis, Hepatomegaly, Splenomegaly, Vaginal atresia, Horsesh...	OMIM:617088
Chédiak-Higashi Syndrome	Lymphadenopathy, Inability to walk, Gait disturbance, Ataxia, Hepatosplenomegaly, Splenomegaly	ORPHA:167
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney	ORPHA:3186
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia	ORPHA:85167
Aicardi Syndrome	Microphthalmia, Precocious puberty, Cleft palate, Hepatoblastoma, Hiatus hernia	OMIM:304050
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Hepatosplenomegaly, Splenomegaly	OMIM:615688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:614643
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Accessory spleen, Long ...	OMIM:268300
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology...	ORPHA:109
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Monosomy 9Q22.3	Nephroblastoma, Ovarian fibroma, Microphthalmia	ORPHA:77301
Holoprosencephaly 9	Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi...	OMIM:610829
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Histiocytosis-Lymphadenopathy Plus Syndrome	Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:602782
Oculodentodigital Dysplasia	Neurogenic bladder, Cleft palate, High palate, Microphthalmia	OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Fontaine Progeroid Syndrome	High, narrow palate, Microphthalmia, Gastroesophageal reflux, Hypoplastic labia majora, Hypoplast...	OMIM:612289
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Aplasia of the thymus	ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Splenomegaly	ORPHA:98849
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Bifid scrotum, Bifid uvula, Dysphagia, Septate vagina, Abno...	ORPHA:2152
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, High palate, Cryptorchidism, Micropenis	OMIM:613884
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, High, narrow palate, Anemia, Increased mean corpusc...	ORPHA:33364
Q Fever	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:781
Microphthalmia, Syndromic 1	High, narrow palate, Rectal prolapse, Aganglionic megacolon, Hypospadias, Hydroureter, Renal hypo...	OMIM:309800
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, High palate, Female hypogonadism, Renal h...	OMIM:607932
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Cleft palate, Microglossia	ORPHA:364577
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Decreased...	ORPHA:93325
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Bifid scrotum, Bifid uvula, Dysphagia, Septate vagina, Agan...	ORPHA:261537
Momo Syndrome	Bilateral microphthalmos, High palate	ORPHA:2563
Incontinentia Pigmenti	Eosinophilia, Microphthalmia, Supernumerary nipple	ORPHA:464
Traboulsi Syndrome	Microphthalmia, Bifid uvula, High palate, Homocystinuria	OMIM:601552
Congenital Syphilis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Septate vagina, Bifid uvula, Phthisis bulbi, Submucous...	OMIM:300166
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Hennekam Syndrome	Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Aganglionic megacolon, Hypospadias, Bifid scrotum, Pyl...	OMIM:235730
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Cleft palate, Microphthalmia	ORPHA:2714
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Gastrointestinal hemorrhage, Bilateral microphthalmos, Unilateral rena...	ORPHA:508488
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Phace Association	Optic nerve hypoplasia, Microphthalmia, Lingual thyroid	OMIM:606519
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100086
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Bifid scrotum, Bifid uvula, Dysphagia, Duplication of renal...	ORPHA:261552
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cleft palate	OMIM:153400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Bilateral cleft palate, Panhypopituitarism, Unilateral ...	OMIM:610828
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Cleft palate	OMIM:201180
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Behçet Disease	Lymphadenopathy, Ataxia, Splenomegaly, Gait disturbance	ORPHA:117
Coccidioidomycosis	Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen	ORPHA:228123
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Exaggerated median tongue furrow, High palate, Cleft palate, Submucous cleft soft...	OMIM:608670
Myhre Syndrome	Microphthalmia, Cleft palate, Cryptorchidism	OMIM:139210
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:32960
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia, Nail dystrophy, Peritonitis	ORPHA:2968
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Witteveen-Kolk Syndrome	High, narrow palate, Microphthalmia, Decreased response to growth hormone stimulation test, Hypos...	OMIM:613406
Adams-Oliver Syndrome 1	Microphthalmia, Cleft palate, Imperforate hymen, Supernumerary nipple	OMIM:100300
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Neu-Laxova Syndrome 1	Microphthalmia, Renal agenesis, Cleft palate, Bifid uterus, Cryptorchidism	OMIM:256520
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Monosomy 13Q14	Microphthalmia, Abnormality of the gastrointestinal tract	ORPHA:1587
Holoprosencephaly 1	Microphthalmia, Micropenis, Median cleft palate	OMIM:236100
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Ectopic thyroid, Lens coloboma	ORPHA:42775
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Splenomegaly	ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Elevated circulating creatine kinase conce...	OMIM:253280
African Trypanosomiasis	Akinesia, Difficulty walking, Lymphadenopathy, Gait disturbance, Hepatosplenomegaly, Splenomegaly...	ORPHA:3385
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cleft soft palate, Cleft palate, Abnormal parotid gland morphology, Cry...	OMIM:154500
Brucellosis	Lymphadenopathy, Splenomegaly, Hypersplenism	ORPHA:1304
Marburg Hemorrhagic Fever	Lymphadenopathy, Lethargy	ORPHA:99826
Frontofacionasal Dysplasia	Microphthalmia, Bifid uvula	OMIM:229400
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Neuroocular Syndrome	Microphthalmia, Short uvula, Ankyloglossia, Hypoplasia of the fovea, Lens coloboma, Submucous cle...	OMIM:619539
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Bifid uvula, High palate	OMIM:612474
Sarcoidosis	Abnormal lymph node morphology, Lymphadenopathy	ORPHA:797
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cleft palate	ORPHA:306542
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Proteasome-Associated Autoinflammatory Syndrome 1	Lymphadenopathy, Splenomegaly	OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Dystonia, Exaggerated startle response	ORPHA:438213
Primary Sjögren Syndrome	Lymphadenopathy	ORPHA:289390
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine r...	ORPHA:649
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi...	OMIM:164210
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
Crimean-Congo Hemorrhagic Fever	Lymphadenopathy, Splenomegaly	ORPHA:99827
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Blau Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:90340
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Elevated circulating creatine kinase concentration, Hemolytic anemia, Hypoplasia ...	OMIM:175780
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Bilateral cleft palate, Median cleft palate, Bifid u...	OMIM:157170
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Neoplasm of the thymus	ORPHA:99889
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Leptospirosis	Lymphadenopathy	ORPHA:509

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 C1qtnf1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 C1qtnf1.

No publications found that use IMPC mice or data for C1qtnf1.

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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
C1qtnf1^{tm41202(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
C1qtnf1^{tm41202(L1L2_st2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
C1qtnf1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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

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Gene: C1qtnf1 MGI:1919254

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Human diseases caused by C1qtnf1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data