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Gene: Ldlr MGI:96765

Gene Summary

Name:

low density lipoprotein receptor

Synonyms:

N/A

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
increased circulating iron level	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.69×10^-06
increased grip strength	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.03×10^-05
decreased circulating unsaturated transferrin level	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.60×10^-06
increased mean corpuscular volume	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.39×10^-07
abnormal auditory brainstem response	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.64×10^-05
decreased locomotor activity	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.78×10^-05
increased circulating cholesterol level	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating HDL cholesterol level	Ldlr^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.24×10^-19

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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

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Human diseases caused by Ldlr 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 Ldlr (2 diseases)
Human diseases predicted to be associated with Ldlr (1945 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypercholesterolemia, Familial, 1		Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis	OMIM:143890
Homozygous Familial Hypercholesterolemia		Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Peripher...	ORPHA:391665

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

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis	OMIM:603813
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at...	OMIM:618666
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency	Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest...	ORPHA:79506
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis	OMIM:604091
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe...	OMIM:144300
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Heparin Cofactor Ii Deficiency	Post-angioplasty coronary artery restenosis	OMIM:612356
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Premature coronary artery atherosclerosis	OMIM:608320
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis	OMIM:145750
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Arterial Dissection With Lentiginosis	Arterial dissection, Cystic medial necrosis	OMIM:600459
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Arterioscleros...	ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Coronary Artery Dissection, Spontaneous	Cystic medial necrosis, Coronary artery dissection	OMIM:122455
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:615703
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis	OMIM:618463
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia	OMIM:245900
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Prominent superficial veins, Hypertri...	OMIM:608600
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronary artery atherosc...	ORPHA:140905
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather...	OMIM:144010
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL choleste...	ORPHA:209902
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Premature coronary artery atherosc...	OMIM:610947
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva...	OMIM:618620
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Foam cells with lamellar inclusion bodies,...	OMIM:607616
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia, Increased erythrocyte prot...	OMIM:300752
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Prominent ...	OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hypocalc...	OMIM:612526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Dilatation of the cerebral artery, Atherosclerosis	ORPHA:91135
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Dysbetalipoproteinemia	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce...	ORPHA:412
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Short attention span, Elevated circulating...	ORPHA:171706
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatic steatosis, Hepatomegaly, Hypertriglyceridem...	ORPHA:79083
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Xanthelasma, ...	ORPHA:425
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, R...	ORPHA:363400
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatic steatosis, Hepatomegaly, Diabetes mellitus,...	ORPHA:2348
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho...	ORPHA:69663
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gliosis, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase	OMIM:604484
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Mental deterioration	OMIM:615924
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Diabetes mellitus, Precocious pu...	ORPHA:528
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,...	ORPHA:280365
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Ataxia, Steppage gait, Hypoalbuminemia, Hypercholester...	OMIM:607250
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin, Diabetes mellitus, Elevated circulating creatine kinase concentrati...	OMIM:615980
Analbuminemia	Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester...	OMIM:616000
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for ...	ORPHA:79237
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Precocious atherosclerosis, Perianal...	ORPHA:444490
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli...	ORPHA:276575
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Neonatal Hemochromatosis	Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase...	ORPHA:446
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Fish-Eye Disease	Decreased HDL cholesterol concentration, Atherosclerosis	ORPHA:79292
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Atherosclerosis	ORPHA:2724
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation...	ORPHA:276580
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho...	ORPHA:79278
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Re...	ORPHA:94058
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection...	OMIM:300635
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Pancreatic Colipase Deficiency	Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul...	ORPHA:229
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Increased circulating...	OMIM:613313
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis	OMIM:143890
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo...	ORPHA:264580
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Progressive neurologic deterioration, Large for gest...	ORPHA:263455
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Cerebral hemorrhage, Progressive neurologic deterioration, Leukocytosis, Memory ...	ORPHA:90065
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa...	OMIM:619858
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Elev...	OMIM:617872
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin...	ORPHA:71526
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Decreased circulating...	OMIM:619802
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopathy, Hypoglycemia	OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Thick hair, Hepatosplenomegaly, El...	ORPHA:263501
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1	ORPHA:140941
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Epidermal acanthosis, Absent facial hair, Abnorma...	ORPHA:90368
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Abnormal cereb...	ORPHA:3453
L-Ferritin Deficiency	Alopecia, Decreased circulating ferritin concentration	OMIM:615604
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Hypercholesterolemia, Abnormality of the endocrine system, Abnormality of the ...	ORPHA:77296
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Pulmonary carcinoid tumor, Abnormal intra...	ORPHA:363618
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Generalized hyperpigmentation, Congenital hepat...	ORPHA:79230
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity, Overgrowth, Red hair, Hepatic steatosis	OMIM:620195
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hyperpigmentation of the skin, Incre...	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r...	ORPHA:494424
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Gait ataxia, Limb...	OMIM:208920
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic...	ORPHA:275761
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,...	ORPHA:2269
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, EEG abnormality, Increased mean corpu...	OMIM:617021
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss...	OMIM:608612
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Failure to...	ORPHA:26792
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent...	ORPHA:79095
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions	ORPHA:99000
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu...	OMIM:619013
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Abnormality of retinal ...	ORPHA:48818
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei...	ORPHA:276608
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre...	OMIM:300946
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu...	OMIM:613101
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Tangier Disease	Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hepatosplenomegaly, N...	ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619386
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste...	ORPHA:71
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive...	OMIM:616267
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hyper...	OMIM:602579
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Splenic infarction, Leukocytosis, Target ...	OMIM:603903
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Iris coloboma, Type II diabetes mellitus, Obesity	ORPHA:2377
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Psoriasiform lesion, Hypercalcemia, Abnormal lactate dehydrogenase...	ORPHA:284426
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Absent circulating B cells, Decreased circulati...	OMIM:620282
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Erythema, Palmoplantar scaling skin, Scaling skin, Dry skin	ORPHA:530838
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglo...	OMIM:617253
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Transient ischemic attack, Abnormality of thyroid physiology, Small for gestat...	ORPHA:1830
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Confusion, Decreased nerve conduction velocity, Chorioretinal atrophy, Hyperammonem...	OMIM:238970
Flynn-Aird Syndrome	Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Dementia, Type...	ORPHA:2047
Panbronchiolitis, Diffuse	Foam cells	OMIM:604809
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio	OMIM:125853
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att...	ORPHA:369873
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h...	OMIM:615830
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Atherosclerosis	OMIM:610842
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Ataxia, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism,...	OMIM:617575
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei...	ORPHA:95427
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha...	ORPHA:189427
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Carotid artery stenosis, Elevated circulating sitos...	OMIM:210250
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Peripher...	ORPHA:391665
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Generalized hyperpigmentation, Insulin re...	ORPHA:79086
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia...	OMIM:618775
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Retinitis Pigmentosa 89	Retinal thinning, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Hyperautofluoresc...	OMIM:618955
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Optic atrophy, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Peripheral arterial stenosis, ...	ORPHA:90041
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo...	OMIM:613759
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Cutis laxa, Decrea...	OMIM:301045
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Intracranial hemorrhage, Hypokalemia, Dexamethas...	ORPHA:403
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia...	ORPHA:521219
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ...	ORPHA:3363
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Porphyria Cutanea Tarda	Alopecia, Reduced uroporphyrinogen decarboxylase activity, Onycholysis, Cirrhosis, Hepatocellular...	OMIM:176100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia	OMIM:606528
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Bardet-Biedl Syndrome 5	Obesity, Hypogonadism, Cognitive impairment, Macular dystrophy, Rod-cone dystrophy	OMIM:615983
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Obes...	ORPHA:791
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Acute pancreatitis, Pericarditis, ...	OMIM:619487
Donohue Syndrome	Hypermelanotic macule, Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancr...	OMIM:246200
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Scaling skin, Nail dystrophy, Sparse hair, Alopecia of scalp, D...	OMIM:604536
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Jaundice, S...	ORPHA:905
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Aggressive behavior, Vascular granular osmiophilic material deposition, Arteriosc...	ORPHA:199354
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, White hair, Silver-gray hair, H...	ORPHA:381
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Gm1-Gangliosidosis, Type Iii	Foam cells	OMIM:230650
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Senior-Loken Syndrome 9	Retinal dystrophy, Obesity, Cholestasis, Macular degeneration, Tubulointerstitial nephritis, Hypo...	OMIM:616629
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Elevated circulating long chain fatty ac...	OMIM:614886
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema, Hyperpigmentation of the skin	OMIM:176090
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Foam cells, Elevated carcinoembryonic antigen level	ORPHA:264675
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:98855
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k...	OMIM:201475
Facioscapulohumeral Muscular Dystrophy 1	Exudative retinal detachment, Elevated circulating creatine kinase concentration, Retinal telangi...	OMIM:158900
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Paget Disease Of Bone 6	Coronary artery atherosclerosis	OMIM:616833
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment	ORPHA:364
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Candidiasis, Familial, 1	Abnormality of the endocrine system, Alopecia	OMIM:114580
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia, Tall stature	ORPHA:2849
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop...	OMIM:264470
Bathing Suit Ichthyosis	Alopecia, Epidermal acanthosis, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair	ORPHA:100976
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas...	OMIM:261680
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri...	ORPHA:858
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser...	ORPHA:465508
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy	OMIM:614284
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Normocytic anemia, Decreased circ...	OMIM:300972
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia, Type II diabetes mellitus, Thick hair, Highly arched eyebrow	ORPHA:401923
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Pitui...	ORPHA:90674
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deteri...	OMIM:615453
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:611182
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Vasculitis, Anemia	ORPHA:375
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp...	ORPHA:199299
Hutchinson-Gilford Progeria Syndrome	Precocious atherosclerosis, Premature coronary artery atherosclerosis	OMIM:176670
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:98863
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo...	OMIM:615990
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:261
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Ataxia, Bone-marrow foam cells, Neu...	OMIM:257220
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr...	ORPHA:98853
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Aapoaiv Amyloidosis	Diabetes mellitus, Renal interstitial amyloid deposits, Hyperlipidemia, Paraproteinemia, Elevated...	ORPHA:439232
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Hypoketotic hypoglycemia, Failure to thrive, Increased circ...	OMIM:610768
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re...	OMIM:193220
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia...	ORPHA:171
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho...	ORPHA:14
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepati...	ORPHA:79259
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos...	ORPHA:98907
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, At...	OMIM:603553
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Arterial stenosis, Cerebral artery atherosclerosis, Gait di...	ORPHA:1192
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, ...	ORPHA:819
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Aganglionic megaco...	OMIM:209900
Bardet-Biedl Syndrome 16	Obesity, Hypogonadism, Cognitive impairment, Recurrent otitis media, Rod-cone dystrophy, Retinal ...	OMIM:615993
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, T...	ORPHA:3085
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ...	ORPHA:171876
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesit...	ORPHA:73272
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Elevated circulating phytanic acid...	OMIM:266510
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Pigmentary reti...	OMIM:614307
Hereditary Hemorrhagic Telangiectasia	Peripheral arteriovenous fistula, Transient ischemic attack, Portal hypertension, Abnormal cerebr...	ORPHA:774
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Senior-Loken Syndrome	Congenital hepatic fibrosis, Retinal dystrophy, Abnormality of retinal pigmentation	ORPHA:3156
Niemann-Pick Disease, Type A	Hepatomegaly, Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotran...	OMIM:257200
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Skin rash, Thrombocytopenia, Patent ductus art...	ORPHA:290
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,...	ORPHA:37042
Pyruvate Carboxylase Deficiency	Anorexia, Cerebellar gliosis, Compulsive behaviors, Basal ganglia gliosis, Hyperglycemia, Hypoglu...	ORPHA:3008
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop...	OMIM:617591
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis	OMIM:209010
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Elevated circula...	OMIM:618805
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto...	OMIM:616959
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypothyroidism, Hypocholeste...	OMIM:610883
Cataract 21, Multiple Types	Retinal detachment, Macular hypoplasia	OMIM:610202
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c...	ORPHA:98908
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Oliver-Mcfarlane Syndrome	Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, L...	OMIM:275400
Bardet-Biedl Syndrome 11	Retinopathy, Hypogonadism, Obesity	OMIM:615988
Methanol Poisoning	Confusion, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Intracranial hemorrhag...	ORPHA:31825
Acral Peeling Skin Syndrome	Erythema, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Elevated circulating creatine kinase concentration	OMIM:615181
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitatio...	ORPHA:134
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Nail dystrophy, Small nail, Hypercholesterolemia, Decreased testicular size	OMIM:610644
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Epidermal acanthosis, Sparse eyelashes, Portal hypertension, Thick hair, ...	OMIM:607626
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ...	ORPHA:829
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Orthostatic hypotension, Portal hypertension, Conjugate...	ORPHA:186
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice...	OMIM:615512
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin	OMIM:146590
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hepatiti...	OMIM:304790
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Decreased serum insulin-like growth factor...	ORPHA:79323
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Classical-Like Ehlers-Danlos Syndrome Type 1	Stroke, Thin skin, Adrenal hypoplasia, Precocious atherosclerosis	ORPHA:230839
Narcolepsy Type 1	Transient global amnesia, Obesity	ORPHA:2073
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Scaling skin	OMIM:617571
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Niemann-Pick Disease, Type C2	Hepatomegaly, CNS foam cells, Ataxia, Bone-marrow foam cells, Neurofibrillary tangles, Splenomega...	OMIM:607625
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Dry skin, Scaling skin, Nail dystrophy, Alopecia of scalp	OMIM:618373
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Hypoth...	OMIM:212065
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity	OMIM:615987
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad...	ORPHA:90793
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Werner Syndrome	Sparse scalp hair, Abnormal cerebral vascular morphology, Abnormal hair whorl, Pulmonary artery s...	ORPHA:902
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis	OMIM:612908
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Familial Reactive Perforating Collagenosis	Diabetes mellitus, Abnormal epidermal morphology, Abnormal fingernail morphology	ORPHA:79147
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Patent ductus arteriosus...	OMIM:606003
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, In...	ORPHA:3464
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase...	ORPHA:158048
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Hyperlipidemia, I...	ORPHA:91
Leber Congenital Amaurosis 1	Hepatomegaly, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Hyper...	OMIM:204000
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Combined Oxidative Phosphorylation Deficiency 54	Memory impairment, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Subaortic Stenosis-Short Stature Syndrome	Acne, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulating lipid c...	ORPHA:3191
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Hype...	ORPHA:79474
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy	ORPHA:250984
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Ravine Syndrome	Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Psoriasis 2	Psoriasiform dermatitis, Epidermal acanthosis, Scaling skin	OMIM:602723
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Alopecia, Hypocalcemia	ORPHA:100025
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ...	OMIM:610600
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Stickler Syndrome, Type Ii	Retinal detachment, Abnormal vitreous humor morphology	OMIM:604841
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy,...	OMIM:617406
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran...	ORPHA:681
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Hypoglycemia, Abnormal chorioretinal morpholog...	ORPHA:5
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Griscelli Syndrome Type 1	Premature graying of hair, Hyperlipidemia, White hair	ORPHA:79476
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Thyroiditis, Hepatosplenomegaly, Patchy alopecia, Scaling skin, Type I d...	OMIM:606367
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Generalized hyperpigmentation, Pericarditis, Cachexia, Sple...	ORPHA:3452
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis	OMIM:101900
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Patent ductus arteriosus, Obesity, Hypogonadism, Rod-cone dystrophy, Hep...	OMIM:615996
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615995
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Microcytic anemia, Hepatosplenomegaly, Va...	ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Premature graying...	ORPHA:79477
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Progressive neurologic deterioration, Insulin resistance, Recurrent pn...	OMIM:214150
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Exudative retinopathy, Abnormal vitreous humor morphology, Exudative vitreore...	ORPHA:2788
Idiopathic Localized Lipodystrophy	Erythema, Scaling skin	ORPHA:90158
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Monosomy 13Q34	Hepatic steatosis, Hypercalcemia, Insulin resistance, Obesity, Agenesis of corpus callosum	ORPHA:96168
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Elevated circulat...	ORPHA:39812
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,...	ORPHA:96180
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy	OMIM:160900
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le...	ORPHA:1227
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal glucose homeostasis,...	ORPHA:391673
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90653
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrh...	OMIM:616263
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo...	OMIM:235200
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Obesity	OMIM:615991
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deterioration, Chorioretinal ...	OMIM:618329
Nephronophthisis 15	Elevated hepatic transaminase, Obesity, Retinal degeneration	OMIM:614845
Stiff Skin Syndrome	Retinal detachment, Abnormal circulating lipid concentration	ORPHA:2833
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Onycholysis, Scaling skin	OMIM:270300
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Dry skin, Abnormality of the nail	ORPHA:2584
Cimdag Syndrome	Microvesicular hepatic steatosis, Retinal dystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Verrucous Hemangioma	Epidermal acanthosis	ORPHA:464318
Cutaneous Mastocytoma	Erythema, Scaling skin, Elevated total serum tryptase	ORPHA:79455
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard...	ORPHA:292
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Chorioretinal coloboma	OMIM:617662
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Progressive neurologic deterioration, Inability to walk, Stroke-like episode, Decreased l...	ORPHA:70472
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Portal hypertension, Retinal telangiectasia, Premature graying of hair, Hepatic fib...	OMIM:617341
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Bardet-Biedl Syndrome	Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis	ORPHA:110
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Cockayne Syndrome	Progressive gait ataxia, Retinal arteriolar constriction, Gliosis, Congenital contracture, Hepato...	ORPHA:191
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis	OMIM:615598
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Kerion Celsi	Alopecia	ORPHA:499
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Atherosclerosis	ORPHA:93598
Joubert Syndrome 9	Retinal dystrophy, Hepatic fibrosis	OMIM:612285
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Elevated circulating creatine kinase concentration	OMIM:613153
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Asplenia, Perifoveal ring of hyperautofluorescence,...	OMIM:240300
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Abnormal testis morphology, Abnormal hair morphology, Erythema, Abno...	ORPHA:317
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Splen...	OMIM:222470
Short Syndrome	Prominent superficial veins, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational a...	OMIM:269880
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Retinopathy, Hepatic steatosis, Gliosis	OMIM:615119
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Intracranial hemorrhage, Hypokalemia, Hyperaldos...	ORPHA:369929
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Confusion, Chorioretinal atrophy,...	ORPHA:415
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration, Optic disc pallor, Xanthelasma	OMIM:213700
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
19P13.12 Microdeletion Syndrome	Hyperactivity, Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity, Self-injurious behavi...	ORPHA:254346
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold	OMIM:152950
Lupus Erythematosus Tumidus	Scaling skin	ORPHA:90283
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Alopecia, Elevated circulating aspartate aminotransferase concentration, Elevated c...	OMIM:615559
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin	OMIM:113800
Aorta Coarctation	Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of...	ORPHA:1457
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b...	ORPHA:202
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly...	OMIM:216360
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Frontotemporal...	ORPHA:52430
Antiphospholipid Syndrome, Familial	Retinal detachment, Autoimmune thrombocytopenia, Vitritis, Central retinal artery occlusion, Reti...	OMIM:107320
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O...	OMIM:300148
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Confusion, Elevated circulating creatine kin...	ORPHA:261476
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Cognitive impairment	ORPHA:1178
Bardet-Biedl Syndrome 2	Diabetes mellitus, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Acatalasemia	Arteriosclerosis	ORPHA:926
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy...	OMIM:616033
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Scaling skin, Elevated total s...	ORPHA:79456
Ichthyosis With Confetti	Hypoplastic nipples, Scaling skin, Hypertrichosis	OMIM:609165
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Cognitive impairment	OMIM:619058
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529799
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, ...	ORPHA:169160
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Transient ischemic attack, Small for gestational age, Abnormal immun...	OMIM:242900
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Nail dystro...	ORPHA:2890
Inherited Creutzfeldt-Jakob Disease	Short attention span, Amyloidosis of peripheral nerves, Confusion, Progressive forgetfulness, Str...	ORPHA:282166
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac...	OMIM:618156
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ...	ORPHA:90790
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment	ORPHA:2246
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Scaling skin, Abnormality of the nail	OMIM:607602
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ...	OMIM:175700
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617613
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag...	OMIM:177850
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin	OMIM:212360
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Familial Multiple Lipomatosis	Insulin resistance, Chorioretinitis, Hyperlipidemia, Overgrowth	ORPHA:199276
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent...	ORPHA:90791
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Arteriosclerosis, Severe Juvenile	Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta	OMIM:208060
Achondrogenesis Type 2	Retinal detachment, Abnormal vitreous humor morphology	ORPHA:93296
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Hypogonadotropic hypogo...	ORPHA:298
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Peeling Skin Syndrome 4	Nail dystrophy, Epidermal acanthosis, Scaling skin	OMIM:607936
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to...	OMIM:615438
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis	OMIM:615028
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Aceruloplasminemia	Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, A...	OMIM:604290
Idiopathic Uveal Effusion Syndrome	Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy	OMIM:610951
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Recon Progeroid Syndrome	Hyperconvex thumb nails, Absent lower eyelashes, Scaling skin, Thin skin, Dry skin, Hirsutism	OMIM:620370
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El...	OMIM:235555
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity	ORPHA:85274
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Ddost-Cdg	Elevated hepatic transaminase, Dry skin, Hepatic steatosis, Primary hypothyroidism	ORPHA:300536
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci...	ORPHA:769
Walker-Warburg Syndrome	Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Cryptorchidism, Optic atrophy, Ab...	ORPHA:899
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cupped ear, Persistence ...	OMIM:617052
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Lack of skin elasticity,...	ORPHA:90153
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Autosomal Recessive Spastic Paraplegia Type 15	Diabetes mellitus, Frontotemporal dementia, Pigmentary retinopathy, Retinal flecks, Yellow/white ...	ORPHA:100996
Neuhauser Syndrome	Hypercholesterolemia, Ataxia, Primary hypothyroidism, Dysphagia	OMIM:249310
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu...	OMIM:612562
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease...	ORPHA:231580
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia,...	OMIM:619471
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Abnormal vascular morphology, Hepatic amyloidosis, Renal amyloi...	ORPHA:314652
Estrogen Resistance Syndrome	Acne, Elevated tissue non-specific alkaline phosphatase, Enlarged polycystic ovaries, Increased c...	ORPHA:785
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar scaling skin,...	OMIM:605676
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy	ORPHA:2143
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of...	OMIM:264800
Bardet-Biedl Syndrome 9	Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia	OMIM:615986
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Hepatic steatosis	OMIM:201450
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Acantholysis, Cholestasis, Scaling skin, Skin vesicle, Purpura	ORPHA:293173
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Scaling skin	OMIM:614457
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism, Ataxia	ORPHA:2479
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Tetralogy of Fallo...	OMIM:118450
Gapo Syndrome	Alopecia, Sparse eyelashes, Abnormal cerebral vascular morphology, Sparse eyebrow, Early balding,...	ORPHA:2067
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Hypergonadotr...	ORPHA:2959
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Nail dystrophy, Onychogryposis	ORPHA:79395
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, Thin skin, Delaye...	ORPHA:90154
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Diabetes mellitus, Hypertriglyceridemia, Widened atrophic scar, ...	ORPHA:536532
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Steatorrhea, Recurrent pancreatitis, Decrea...	OMIM:618268
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hepatitis, Chronic hepati...	OMIM:308230
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Gliosis, Glycosuria, Elevated ci...	OMIM:231680
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du...	ORPHA:91387
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Polydipsia, Decreased response to growth hormone sti...	ORPHA:293987
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder	OMIM:613670
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Leukonychia, Onycholysis, Scaling skin, Dry skin	OMIM:616295
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp...	ORPHA:1454
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit...	ORPHA:210548
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Diabetes mellitus, Insulin resistance, Truncal obesity, Cognitive impairment, Abnorm...	OMIM:616541
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Ischemic stroke, Coronary artery atherosclerosis, Moyamoya phenomenon	ORPHA:280679
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Small for gestational age, Gastritis, Increased mean plat...	ORPHA:84064
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Foam cells, Intraalveolar phospholipid accumulation, ...	ORPHA:747
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para...	ORPHA:96253
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Pseudoxanthoma Elasticum	Abnormal cerebral vascular morphology, Vascular dilatation, Lack of skin elasticity, Arterial ste...	ORPHA:758
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmune t...	ORPHA:227990
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Elevated circulating creatine kinase c...	ORPHA:370959
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia	ORPHA:88643
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Mehmo Syndrome	Diabetes mellitus, Obesity	ORPHA:85282
Menkes Disease	Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Cutis laxa, Intracrani...	OMIM:309400
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Bazex Syndrome	Yellow nails, Nail dystrophy, Scaling skin	ORPHA:166113
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Attention deficit hyperactivity disorder, Obesity, Hyperpigmentation of the...	ORPHA:444002
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism	ORPHA:2574
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Abnormal circulating creatine kinase ...	ORPHA:369840
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D...	ORPHA:1882
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Leukopenia, Tubulointerstitial nephritis, Hash...	ORPHA:227982
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Cholelithiasis, Decreased testicular size	OMIM:300534
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro...	OMIM:127550
Mccune-Albright Syndrome	Abnormal endocrine physiology, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone...	ORPHA:562
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Ataxia, Small for gestational age, Increased hepatocellular lipid ...	OMIM:220111
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend...	OMIM:617168
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Protruding ear, Increased mean corpuscular volume, Thrombocytopenia, Hear...	ORPHA:261250
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Aminoaciduria, Decreased liver function, Gly...	ORPHA:436271
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating creatinine concen...	ORPHA:230
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Elevated gamma-glutamy...	OMIM:619573
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Partia...	ORPHA:79324
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Pigmentary retinopathy, Hypocalcem...	ORPHA:746
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Decreased serum lepti...	OMIM:614008
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexua...	ORPHA:90795
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Retinal dystrophy, Obesity	OMIM:616756
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Vitritis, Hepatitis, Bronchiectasis...	ORPHA:1163
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity	OMIM:620270
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle	ORPHA:79481
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Temple Syndrome	Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati...	ORPHA:254516
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Jaundice, Optic nerve dysplasia,...	OMIM:214110
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy	OMIM:601539
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment	ORPHA:1856
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Hemochromatosis, Type 2A	Splenomegaly, Increased serum iron, Increased circulating ferritin concentration, Lethargy	OMIM:602390
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency...	ORPHA:589
Uveal Melanoma	Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology	ORPHA:39044
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphop...	ORPHA:549
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
Nephronophthisis 16	Enlarged kidney, Periportal fibrosis, Patent ductus arteriosus, Cholestasis	OMIM:615382
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Macular degeneration, Mental deterioration, Agenesis of corpus callosum, Retinal degener...	OMIM:604360
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen...	OMIM:613989
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Onycholysis	ORPHA:525
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Excessiv...	ORPHA:3051
Cerebrotendinous Xanthomatosis	Optic disc pallor, Precocious atherosclerosis, Optic neuropathy, Abnormal retinal vascular morpho...	ORPHA:909
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu...	OMIM:268020
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl...	OMIM:307030
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypopigmentation of the skin, Homocystinuria, Methioninuria, Hyperhomocystinemia, Disproportionat...	OMIM:236200
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent...	OMIM:263700
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Psoriasis 14, Pustular	Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Elevated circulating C-reactive prote...	OMIM:614204
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Dystr...	ORPHA:2930
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat...	OMIM:120330
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ...	ORPHA:508
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Dementia	OMIM:551500
Autoimmune Hypoparathyroidism	Confusion, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, C...	ORPHA:36913
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczema, Obesity	ORPHA:3055
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration	OMIM:615982
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I diabetes...	OMIM:560000
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia...	ORPHA:2850
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the pa...	ORPHA:2969
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Aminoaciduria, Decreased liver function, Inc...	OMIM:220110
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ...	OMIM:613102
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Bruxism	ORPHA:289522
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short attention span, Hepatomegaly, Elevated hepatic transaminase, Hypogl...	ORPHA:17
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Hypopigmentation of the fundus	ORPHA:163649
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Elevated circulating phytanic acid concentration	OMIM:215100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Ly...	OMIM:619991
Nance-Horan Syndrome	Retinal detachment	ORPHA:627
Ramon Syndrome	Diabetes mellitus, Failure to thrive, Abnormality of retinal pigmentation	ORPHA:3019
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas...	OMIM:615363
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Megalocornea	Retinal detachment	OMIM:309300
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Ichthyosis, Annular Epidermolytic, 2	Erythema, Scaling skin	OMIM:620148
Ichthyosis, Congenital, Autosomal Recessive 6	Dry skin, Epidermal acanthosis, Scaling skin	OMIM:612281
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Neutro...	OMIM:266130
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia	OMIM:607143
Cln3 Disease	Acne, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Mental deterioration, Increa...	ORPHA:228346
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Blue irides, Obesity, Congenital hypothyroidism, Red hair, Fair hair	OMIM:614613
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Nephronophthisis 11	Anisocoria, Retinal degeneration, Hepatic fibrosis, Anemia	OMIM:613550
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Peeling Skin Syndrome 6	Dry skin, Scaling skin	OMIM:618084
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Immunodeficiency 56	Cholangitis, Chronic hepatitis due to cryptosporidium infection, Recurrent pneumonia, Bronchiecta...	OMIM:615207
Spondylo-Ocular Syndrome	Retinal detachment	ORPHA:85194
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse e...	OMIM:618419
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis, ...	ORPHA:1390
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Pancytopenia, Atrophic gastritis, Chilblains, Pneumonia, Skin ras...	OMIM:615846
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Hepatosplenomegaly	ORPHA:169154
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Hirsutism	OMIM:604931
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea	OMIM:618752
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Diabetes mellitus, Liver abscess, Cholangitis, Psoriasiform d...	ORPHA:183675
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Optic atrophy	OMIM:619833
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Optic atrophy, Hypochromic micro...	ORPHA:66634
Vogt-Koyanagi-Harada Disease	Retinal detachment	ORPHA:3437
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Delirium, Retinal dege...	ORPHA:79282
Bardet-Biedl Syndrome 7	Rod-cone dystrophy, Hypogonadism, Obesity	OMIM:615984
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Lathosterolosis	Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I...	OMIM:607330
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Precocious puberty, Obesity, Progressive language deterioration, Mental deteriorati...	ORPHA:163681
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:610198
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatitis, Hyperlipidemia, Lipemia ...	OMIM:232200
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy	OMIM:617119
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Hyp...	OMIM:232220
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hypopigmentation of hair, Obesity, Hypopigmentation of the skin, Iris hypop...	ORPHA:411515
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Left superior vena cava draining to coronary sinus	ORPHA:464738
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
48,Xxyy Syndrome	Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Attention deficit hyperactivi...	ORPHA:10
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Elevated circulating creatine kinase concentration, Optic atrophy, Retinal dy...	OMIM:253800
Ectopia Lentis Et Pupillae	Retinal detachment	OMIM:225200
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy, Primary adrenal ins...	ORPHA:44
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Retinal detachment	OMIM:609616
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Elevat...	OMIM:274300
Macrocephaly/Autism Syndrome	Hepatomegaly, Short attention span, Large for gestational age, Splenomegaly, Obesity, Overgrowth,...	OMIM:605309
Kid Syndrome	Psoriasiform dermatitis, Epidermal acanthosis, Sparse eyelashes, Sparse eyebrow, Scarring alopeci...	ORPHA:477
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Synophrys, Fac...	OMIM:619503
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Cognitive impairment	ORPHA:2515
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Decreased circulating cortisol level, Psoriasiform dermatitis, Alopecia t...	ORPHA:293978
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugat...	OMIM:613280
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Short Syndrome	Diabetes mellitus, Abnormal pupil morphology, Insulin resistance, Weight loss, Hypoplasia of the ...	ORPHA:3163
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Stickler Syndrome, Type I	Retinal detachment, Vitreoretinopathy, Membranous vitreous appearance, Retinal hole	OMIM:108300
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Hypogonadism	ORPHA:261483
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Calcificati...	ORPHA:2072
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis	OMIM:275630
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Prader-Willi Syndrome	Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased ...	OMIM:176270
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Supernumerary nipple, Retinal vascular...	OMIM:308300
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy...	ORPHA:3143
Combined Oxidative Phosphorylation Deficiency 27	Mental deterioration, Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Niemann-Pick Disease Type C	Hepatomegaly, Ataxia, Bone-marrow foam cells, Progressive neurologic deterioration, Aggressive be...	ORPHA:646
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling...	ORPHA:52368
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:881
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Morm Syndrome	Truncal obesity, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma	OMIM:615145
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Decreased respo...	ORPHA:1855
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Ataxia,...	ORPHA:20
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Oculofaciocardiodental Syndrome	Retinal detachment, Patent ductus arteriosus, Peripheral pulmonary artery stenosis	ORPHA:2712
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ...	ORPHA:978
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation of the skin, I...	ORPHA:177910
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity, Melanocytic nevus	OMIM:300471
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ...	ORPHA:73263
Immunodeficiency 61	Obesity, Arthritis, Attention deficit hyperactivity disorder, Recurrent sinusitis, Recurrent otit...	OMIM:300310
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Sturge-Weber Syndrome	Retinal detachment, Abnormal cerebral vascular morphology, Abnormal retinal vascular morphology, ...	ORPHA:3205
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Retinal arteriolar tortuosity, Cryptorchidism, Splenomegaly, Patent ductus ar...	ORPHA:567
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo...	ORPHA:125
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypogonadism	ORPHA:1466
Congenital Disorder Of Glycosylation, Type If	Dry skin, Scaling skin	OMIM:609180
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Atrophoderma Vermiculata	Abnormal epidermal morphology, Erythema	ORPHA:79100
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Gastrocutaneous Syndrome	Coronary artery atherosclerosis	ORPHA:2069
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem...	ORPHA:1215
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Mednik Syndrome	Cirrhosis, Increased circulating very long-chain fatty acid concentration, Hepatic fibrosis, Chol...	OMIM:609313
Borjeson-Forssman-Lehmann Syndrome	Obesity, Delayed puberty	OMIM:301900
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Diabetes mellitus, Obesity, Rod-cone dystrophy	OMIM:605231
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Leigh Syndrome	Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Gliosis, Failure to thrive	OMIM:256000
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Jaundice, Bic...	OMIM:229600
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Chung-Jansen Syndrome	Cafe-au-lait spot, Obesity, Attention deficit hyperactivity disorder	OMIM:617991
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Inability to walk, Flexio...	OMIM:617303
Proteus Syndrome	Splenomegaly, Epidermal acanthosis, Venous malformation	OMIM:176920
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Infection associated neutropenia, Neutropenia, Hep...	ORPHA:445038
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Retinal detachment	ORPHA:3218
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Agenesis of corpus callo...	OMIM:614866
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular ...	ORPHA:1900
Neonatal Inflammatory Skin And Bowel Disease	Psoriasiform dermatitis, Erythema, Horizontal eyebrow, Scaling skin, Slow-growing scalp hair, Chr...	ORPHA:294023
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland...	ORPHA:2552
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Retinal dystrophy, Obesity, Hyperuricemia, Attention deficit hyperactivity...	ORPHA:261222
Woodhouse-Sakati Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad...	OMIM:241080
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly	OMIM:301066
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:615273
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Hepatic fibrosis, Retinal dysplasia, C...	OMIM:213300
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Pigmentary retinopathy, Ascites, Iris coloboma	OMIM:253250
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Coarse ...	ORPHA:75389
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, T...	OMIM:611126
Chromosome Xq21 Deletion Syndrome	Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration	OMIM:303110
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Ascites, Cirrhosis, Failure to thri...	ORPHA:974
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o...	ORPHA:3261
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Retinal atrophy, Optic atrophy	ORPHA:97297
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism...	OMIM:612462
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gl...	OMIM:619534
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Confusion, Skin rash, Jaundice, Hepatitis, Hepatic n...	ORPHA:90062
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
X-Linked Acrogigantism	Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,...	ORPHA:300373
Ataxia With Vitamin E Deficiency	Mental deterioration, Abnormality of retinal pigmentation, Diabetes mellitus	ORPHA:96
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital stationary night blindness, Obesity, Congenital hypothyroidism	ORPHA:352530
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Epidermal acanthosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Inguinal hernia, Hypoglycemia, Small for gestational...	OMIM:613658
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Jeune Syndrome	Abnormality of retinal pigmentation, Abnormality of the liver	ORPHA:474
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Epidermal acanthosis	OMIM:617526
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy, Elevated circulating creatine kinase concentration	ORPHA:370968
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Fair hair, Retinal dystrophy, Cholangitis, Pancreatic cysts, Congenital hepatic fib...	OMIM:266920
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri...	ORPHA:369837
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Abnormality of retinal pigmentat...	ORPHA:394
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Leptin Deficiency Or Dysfunction	Recurrent pneumonia, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity	OMIM:610156
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia...	ORPHA:358
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Neutrophilia, Confusion, Leukocytosis, Chronic hepatitis, Hepatosplenomegal...	ORPHA:3260
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Degenerative vitreoretinopathy	ORPHA:1427
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Optic disc pallor, Pigmentary retinopathy,...	ORPHA:79264
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Joubert Syndrome 8	Hepatomegaly, Optic disc pallor, Obesity, Pigmentary retinopathy, Prolonged neonatal jaundice	OMIM:612291
Spinocerebellar Ataxia 7	Mental deterioration, Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Elevated...	ORPHA:466677
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Satoyoshi Syndrome	Alopecia, Mildly elevated creatine kinase, Alopecia universalis	OMIM:600705
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair	ORPHA:50812
Bloom Syndrome	Hypopigmentation of the skin, Small for gestational age, Elevated hemoglobin A1c, Spotty hypopigm...	OMIM:210900
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Truncus arteriosus, Failure to thrive, Co...	OMIM:600001
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Nail dys...	OMIM:612843
Sézary Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Nail dystrophy, Dry skin	ORPHA:3162
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary gland, De...	OMIM:612079
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Adrenoleukodystrophy	Hypogonadism, Elevated circulating long chain fatty acid concentration, Alopecia, Primary adrenal...	OMIM:300100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Reticular hyperpigmentation, Hepati...	OMIM:224230
Omenn Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Thyroiditis, Dry skin, Hypothyroidism, Aplasia/Hypoplasia o...	ORPHA:39041
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm	ORPHA:50944
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Retinitis, Jaundice, Hepatitis, Retinal hemorrhage, Mac...	ORPHA:319251
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Hypercalcemia, Progressive psychomotor deterioration, O...	ORPHA:251004
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Arima Syndrome	Hepatomegaly, Retinal dystrophy, Optic atrophy, Hepatic fibrosis, Cirrhosis, Chorioretinal colobo...	OMIM:243910
Adrenomyodystrophy	Primary adrenal insufficiency, Generalized hyperpigmentation, Failure to thrive, Hepatic steatosis	ORPHA:977
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic ne...	OMIM:236670
Acute Disseminated Encephalomyelitis	Viral hepatitis, Confusion, Herpes simplex encephalitis, Optic neuritis, Mental deterioration, My...	ORPHA:83597
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Summitt Syndrome	Obesity	OMIM:272350
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponat...	ORPHA:534
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin	OMIM:146700
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce...	ORPHA:91355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:613154
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Cognitive impairment, Pigmentary retinopathy, Optic atrophy, Increased intramyocellular lipid dro...	OMIM:252011
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al...	OMIM:309000
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Retinal detachment, Thyroid hypoplasia, Vertebrobasilar dolichoectasia	ORPHA:521445
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Accessory spleen, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Digeorge Syndrome	Parathyroid agenesis, Splenomegaly, Patent ductus arteriosus, Thrombocytopenia, Right aortic arch...	OMIM:188400
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Inflammatory Skin And Bowel Disease, Neonatal, 2	Long eyelashes, Epidermal acanthosis, Coarctation of aorta	OMIM:616069
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog...	OMIM:615994
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Inflammatory abnormality of t...	ORPHA:816
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Cystinosis, Nephropathic	Progressive neurologic deterioration, Aminoaciduria, Hypophosphatemic rickets, Male hypogonadism,...	OMIM:219800
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Thyroiditis, Steatorrhea, Hypocalcemia, Delayed puberty,...	OMIM:212750
Riddle Syndrome	Intraventricular hemorrhage, Erythema, Scaling skin, Elevated circulating alpha-fetoprotein conce...	ORPHA:420741
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of...	OMIM:600142
Zinc Deficiency, Transient Neonatal	Alopecia, Decreased serum zinc	OMIM:608118
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoca...	OMIM:243800
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Cadds	Elevated hepatic transaminase, Cholangitis, Adrenal hypoplasia, Cholestasis, Increased circulatin...	ORPHA:369942
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Chorioretinal atrophy, Retina...	OMIM:612109
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,...	ORPHA:355
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteri...	ORPHA:1662
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Adiposis Dolorosa	Obesity	OMIM:103200
Acute Radiation Syndrome	Scaling skin, Skin ulcer	ORPHA:454831
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith...	ORPHA:448237
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Chorioretinal coloboma	ORPHA:2031
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Kniest Dysplasia	Retinal detachment	OMIM:156550
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
14Q11.2 Microduplication Syndrome	Hypothyroidism, Obesity, Attention deficit hyperactivity disorder	ORPHA:261229
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Glucose...	OMIM:219090
Pseudohypoparathyroidism, Type Ia	Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:103580
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s...	OMIM:201810
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Patent ductus arteriosus, Elevated circulating thyroid-s...	OMIM:620185
Alkaptonuria	Coronary artery calcification, Atherosclerosis	ORPHA:56
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy	OMIM:222448
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Thin eyebrow, Decreased testicular size	ORPHA:3242
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:619473
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Cutis laxa	ORPHA:79148
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Epidermal acanthosis, Elevated circulating C-reactive protein concentration, Spleno...	OMIM:617388
Knobloch Syndrome	Retinal detachment, Patent ductus arteriosus, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Lower-limb ...	ORPHA:99885
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal...	ORPHA:436252
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Ichthyosis, Congenital, Autosomal Recessive 5	Epidermal acanthosis, White scaling skin	OMIM:604777
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for...	ORPHA:404454
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials	OMIM:619260
Marshall Syndrome	Retinal detachment, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:560
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Cranioectodermal Dysplasia 1	Hepatomegaly, Retinal dystrophy, Malformation of the hepatic ductal plate, Tubulointerstitial nep...	OMIM:218330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine...	OMIM:615356
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar...	OMIM:129400
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Retinal dystrophy, Obesity	ORPHA:464282
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Confusion, Meg...	OMIM:277400
Joubert Syndrome 37	Hepatomegaly, Obesity	OMIM:619185
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Dementia, ...	ORPHA:644
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Optic atrophy, Rapid neurologic ...	ORPHA:585
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Neonatal hypoglycemia, Flexion contracture, Choreoathetosis, Leukopenia, Neutropenia, Hep...	OMIM:616271
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Ataxia, Confusion, Cachexia	ORPHA:220295
Dubowitz Syndrome	Short attention span, Hyperactivity, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukem...	OMIM:223370
Leptospirosis	Hepatomegaly, Papilledema, Pericarditis, Skin rash, Macular cotton wool spot, Jaundice, Hepatitis...	ORPHA:509
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, C...	ORPHA:83617
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of...	ORPHA:93111
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Progressive neurologic d...	ORPHA:91139
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Distal Duplication 5Q	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Chorioretinal coloboma	ORPHA:96097
3P25.3 Microdeletion Syndrome	Ataxia, Patent ductus arteriosus, Knee flexion contracture, Attention deficit hyperactivity disor...	ORPHA:435638
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc...	OMIM:600462
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Ane Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior p...	ORPHA:157954
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Epidermal acanthosis	ORPHA:2199
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Abnormality of peri...	ORPHA:90321
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Omenn Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Hypoplasia of the thymus, Hypoproteinemia	OMIM:603554
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Lack of skin elasticity	ORPHA:1366
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Supernumerary nipple, Retina...	ORPHA:464
Trisomy 5P	Obesity	ORPHA:1742
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Adrenal hypoplasia, Brushfield ...	OMIM:214100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature pubarche, Diabetes mellitus, Small for gestational age, Decreased response to growth ho...	ORPHA:98754
Basan Syndrome	Epidermal acanthosis, Nail dystrophy	OMIM:129200
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Obesity, Cognitive impairment	ORPHA:459033
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Transient ischemic...	ORPHA:740
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Mal De Meleda	Erythema, Epidermal acanthosis	ORPHA:87503
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Cutis Marmorata Telangiectatica Congenita	Retinal detachment	OMIM:219250
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Cryptorchidism, Abnormal mesentery morphology	ORPHA:2953
Melas	Hypoparathyroidism, Short attention span, Diabetes mellitus, Hypogonadotropic hypogonadism, Optic...	ORPHA:550
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Hypogonadism, Obesity	OMIM:615985
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Chronic otitis media, Obesity	ORPHA:480907
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of facial adipose ...	ORPHA:3455
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short attention span, Obesity, Tall stature	OMIM:618089
Giant Cell Arteritis	Alopecia, Vasculitis, Skin ulcer, Aortic dissection, Hepatic failure, Diabetes insipidus, Abdomin...	ORPHA:397
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Small nail	OMIM:242100
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature pubarche, Diabetes mellitus, Small for gestational age, Decreased response to growth ho...	ORPHA:98793
Immunodeficiency, Common Variable, 8, With Autoimmunity	Psoriasiform lesion, Splenomegaly, Thyroiditis, Type I diabetes mellitus, Hypothyroidism	OMIM:614700
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst...	ORPHA:90796
Combined Deficiency Of Factor V And Factor Viii	Intracranial hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Atopic dermatitis, Obesity	OMIM:606772
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature pubarche, Diabetes mellitus, Small for gestational age, Decreased response to growth ho...	ORPHA:177904
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular hypertrophy, Pigmentary retinopathy, Facial palsy, Elevated circulating creatine...	OMIM:613156
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Hepatic steatosis, Abnormal repetitive mannerisms, Restrictive behavi...	OMIM:619475
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature pubarche, Diabetes mellitus, Small for gestational age, Decreased response to growth ho...	ORPHA:177901
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Optic nerve hypoplasia, ...	ORPHA:3157
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Pseudopseudohypoparathyroidism	Obesity, Cognitive impairment, Pseudohypoparathyroidism	OMIM:612463
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ...	ORPHA:398079
Monosomy 18P	Webbed neck, Alopecia, Hypothyroidism, Low posterior hairline	ORPHA:1598
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Biotinidase Deficiency	Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Decreased circulating biotinidase concentra...	OMIM:253260
Williams Syndrome	Aortic arch aneurysm, Overriding aorta, Hypercalcemia, Elevated circulating creatine kinase conce...	ORPHA:904
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Hypogonadism, Sparse hair, Tetralogy of Fallot	ORPHA:2316
Macs Syndrome	Alopecia, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Redundant skin, Spars...	OMIM:613075
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Psychomotor deterioration, Pigmentary retinopathy, Deficit in phonologic short-term memory	ORPHA:329336
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Nail dystrophy, Atrichia, Decreased t...	ORPHA:1867
Isolated Succinate-Coq Reductase Deficiency	Progressive psychomotor deterioration, Weight loss, Pigmentary retinopathy, Dementia, Left ventri...	ORPHA:3208
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormality of retinal p...	ORPHA:2196
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:600151
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Obesity	OMIM:245800
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas...	OMIM:609049
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Vasculitis in the skin	ORPHA:163525
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Coarctation of aorta, Hypocholesterolemia	OMIM:244450
Wilson-Turner Syndrome	Truncal obesity, Hypogonadotropic hypogonadism	ORPHA:3459
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Arteriovenous malformation, Patent ductus arteriosus, Arterial stenosis	ORPHA:1556
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Dementia, Hypo...	ORPHA:1173
48,Xxxy Syndrome	Obesity, Hypogonadism, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Chron...	ORPHA:96263
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
Johanson-Blizzard Syndrome	Alopecia, Diabetes mellitus, Abnormal hair pattern, Abnormality of the pancreas, Hypoproteinemia,...	ORPHA:2315
Knobloch Syndrome 2	Retinal detachment, Patent ductus arteriosus, Vitreoretinopathy, Vitreous floaters	OMIM:618458
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Pulmonary lympha...	OMIM:137940
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor...	ORPHA:99027
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Anterior hypopituitarism	ORPHA:480
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Hypokalemia, Abnormality of circulating cortisol level, Left ventricula...	ORPHA:320
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Epidermal acanthosis, Thin nail, Short nail, Sparse eye...	OMIM:257980
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Alopecia, Abnormal eyebrow morphology, Abnormal fingernai...	ORPHA:1775
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Baralle-Macken Syndrome	Cafe-au-lait spot, Obesity	OMIM:619255
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Vitreoretinopathy	OMIM:183900
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Adrenal hypoplasia, Absent eyelashes, Sparse eyebrow, Patent ductus...	OMIM:275210
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Obesity	ORPHA:2206
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Clark-Baraitser Syndrome	Obesity	OMIM:617752
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Epidermal acanthosis, Alopecia totalis	OMIM:300918
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dystrophy	OMIM:175500
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc...	ORPHA:160
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity, Melanocytic nevus	ORPHA:85280
Hydrocephalus-Obesity-Hypogonadism Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Immunodeficiency 58	Psoriasiform lesion, Scaling skin	OMIM:618131
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Optic atrophy, Obesity	OMIM:614651
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Obesity	ORPHA:893
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Lateral ventricle dilatation, Retinal dystrophy, Hepatic fibrosis	OMIM:263520
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st...	OMIM:615577
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Splenomegaly, Patent ductus...	OMIM:270400
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Optic atrophy,...	OMIM:222300
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia	ORPHA:79242
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Weight loss, Pigmentary retinopathy, Cognitive impairment, Attention deficit h...	ORPHA:216866
Cerebral Amyloid Angiopathy, Cst3-Related	Generalized amyloid deposition, Cerebral hemorrhage, Intracranial hemorrhage, Dementia, Stroke	OMIM:105150
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Primary adrenal insufficiency, Pigme...	OMIM:530000
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Orthostatic hypotension, Overweight, Mental deterioration, Obesity, Lateral...	ORPHA:2822
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Retinal pigment epithelial mottling, Elevated urinary aminoisobutyric aci...	OMIM:614105
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Epidermal acanthosis, Adrenal hypoplasia, Elevated 8-dehydrocholesterol, Elevated 8(9)-...	OMIM:308050
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hy...	ORPHA:412057
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Polysplenia	OMIM:610543
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Stomatitis, Chronic pancreatitis, Hyperlipidemia,...	OMIM:232240
Marfan Syndrome	Retinal detachment, Descending aortic dissection, Dilatation of an abdominal artery, Ascending tu...	ORPHA:558
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Summitt Syndrome	Obesity, Tall stature	ORPHA:3210
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Hypogonadism, Nail dystrophy, Spa...	ORPHA:3253
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Rafiq Syndrome	Truncal obesity, Obesity	OMIM:614202
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Hyperammonemia, Hyperleucinemia, Propionyl-CoA carboxylase defici...	OMIM:210210
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Alopecia, Sparse eyelashes, Prominent sc...	OMIM:264090
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Cryptorchidism, Patent ductus arteriosus, Posterior pituit...	ORPHA:464311
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Hypogonadism, Obesity, Retinal coloboma	ORPHA:363741
Carpenter Syndrome	Patent ductus arteriosus, Obesity, Polysplenia	ORPHA:65759
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration, Alopecia, Elevated circulating parathyro...	OMIM:600785
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Left ventricular hypertrophy, Hyperalaninemia, Elevated circulating creatine kinase concentration...	OMIM:615418
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:2233
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Rod-cone dystrophy, Obesity	OMIM:615633
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin rash, Hepatitis	ORPHA:1334
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Gliosis, Elevated hepatic iron concentration, Basal ganglia...	OMIM:614946
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Obesity	ORPHA:171839
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Obesity	ORPHA:397973
Gapo Syndrome	Hepatomegaly, Alopecia, Prominent scalp veins, Sparse eyelashes, Redundant skin, Sparse eyebrow, ...	OMIM:230740
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Eczema, Obesity, Pseudohypoparathyroidism	ORPHA:464288
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Hypogonadism, Obesity, Retinal coloboma	OMIM:601794
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Alopecia, Precocious puberty, Coarctation of aorta	OMIM:163200
Marshall Syndrome	Retinal detachment, Vitreoretinopathy	OMIM:154780
Cysticercosis	Retinal detachment, Abnormal optic chiasm morphology, Stroke, Chorioretinitis	ORPHA:1560
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d...	ORPHA:206448
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Olmsted Syndrome 2	Sparse hair, Woolly hair, Epidermal acanthosis, Alopecia universalis	OMIM:619208
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Tetralogy of Fallot	ORPHA:210122
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Intracranial hemo...	ORPHA:163979
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone...	OMIM:277440
Beckwith-Wiedemann Syndrome	Large for gestational age, Cardiomegaly, Hepatoblastoma, Hypothyroidism, Polycythemia, Hepatomega...	ORPHA:116
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly, Diabetes mellitus, Increased circulating insulin-like growth factor 1 concentrati...	OMIM:270450
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo...	ORPHA:2232
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia	OMIM:619059
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment	ORPHA:141
White-Sutton Syndrome	Optic nerve hypoplasia, Rod-cone dystrophy, Patent ductus arteriosus, Obesity, Hypoglycemic seizu...	OMIM:616364
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating ...	ORPHA:79318
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Decr...	OMIM:216550
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Decreased iduronate sulfatase level, Abnormality of retinal pigmentati...	OMIM:309900
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Juvenile Dermatomyositis	Calcinosis, Alopecia, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:93672
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair	ORPHA:659
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus	ORPHA:2801
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia	OMIM:616881
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Abdominal obesity, Hypopl...	OMIM:619321
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Optic atrophy, Obesity, Hypogonadism	OMIM:614231
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal epidermal morphology	ORPHA:398189
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Patent ductus arteriosus, Chorioretinal atrophy, Vitreoret...	OMIM:267750
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ...	OMIM:300755
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Orofaciodigital Syndrome I	Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Agenesis of corpus callosum, Hepatic ...	OMIM:311200
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment	ORPHA:94068
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Short attention span, Patent ductus arteriosus, Obesity, Decreased body weight	ORPHA:589821
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Short attention span, Obesity	OMIM:619056
Idiopathic Intracranial Hypertension	Papilledema, Obesity	ORPHA:238624
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Perianal erythema, Sparse scalp hair, Absent ...	OMIM:308205
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Abnormality of the endocrine system, ...	ORPHA:166035
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Truncal obesity, Obesity	OMIM:618363
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad...	OMIM:300869
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hypogonadism, Truncal obesity, Cafe-au-lait spot, Blue irides	ORPHA:3041
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypopigmentation of hair, Precocious puberty, Increased body weight, Absence ...	ORPHA:398069
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing...	ORPHA:37
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Myocarditis, Obesity, Left ventricular hype...	ORPHA:563
Radio-Tartaglia Syndrome	Precocious puberty, Agenesis of corpus callosum, Obesity, Attention deficit hyperactivity disorder	OMIM:619312
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Confusion, Elevated circulating C-reactiv...	ORPHA:319213
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Obesity	OMIM:618443
Chromosome 2Q37 Deletion Syndrome	Eczema, Hypothyroidism, Obesity	OMIM:600430
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular hepatic steatosis,...	OMIM:300868
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis	OMIM:617443
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Prader-Willi Syndrome	Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes...	ORPHA:739
Cornelia De Lange Syndrome 5	Truncal obesity, Hypogonadism	OMIM:300882
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, ...	ORPHA:90324
Brittle Cornea Syndrome	Retinal detachment	ORPHA:90354
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Neutr...	ORPHA:193
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Nail dystrophy, Scaling skin, Alopecia universalis	ORPHA:158668
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Prolidase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Crusting erythematous dermatitis...	ORPHA:742
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia, Pigmentary...	ORPHA:411629
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Biliary atresia, Tetralogy of Fallot, Pancre...	ORPHA:2255
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Schaaf-Yang Syndrome	Hypogonadism, Failure to thrive in infancy, Obesity	OMIM:615547
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Interrupted aortic arch	OMIM:300712
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of retinal pigmentation, Aganglionic megacolon, Abnormality of the panc...	ORPHA:175
Mogs-Cdg	Hepatomegaly, Alopecia, Hepatosplenomegaly, Hydrocele testis, Long eyelashes, Inappropriate antid...	ORPHA:79330
Carpenter Syndrome 1	Precocious puberty, Patent ductus arteriosus, Optic atrophy, Obesity, Polysplenia	OMIM:201000
Aicardi Syndrome	Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Hepatoblastoma	OMIM:304050
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Down Syndrome	Aganglionic megacolon, Obesity, Type II diabetes mellitus, Hypothyroidism, Acute megakaryocytic l...	ORPHA:870
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin	OMIM:618282
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Spondyloepiphyseal Dysplasia Tarda	Retinal detachment	ORPHA:93284
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Onycholysis, Epidermal acanthosis, Nail dystrophy	OMIM:148700
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Periportal fibrosis, Ascites	OMIM:269860
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Adiposis Dolorosa	Recurrent skin infections, Obesity, Arthritis, Memory impairment, Hypothyroidism	ORPHA:36397
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hypopigmentation of hair, Obesity, Hypopigmentation of the skin, Iris hypop...	ORPHA:98794
Rat-Bite Fever	Pancreatitis, Scaling skin, Parotitis	ORPHA:31205
Vulvovaginal Gingival Syndrome	Ridged nail, Erythema, Epidermal acanthosis	ORPHA:83453
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Hypogonadism, Fine hair	ORPHA:228390
Pancreatic Agenesis-Holoprosencephaly Syndrome	Reduced C-peptide level, Absent gallbladder, Hypoamylasemia, Pancreatic aplasia	ORPHA:556955
Gomez-Lopez-Hernandez Syndrome	Alopecia, Decreased response to growth hormone stimulation test	OMIM:601853
Keutel Syndrome	Pulmonary artery stenosis, Alopecia	ORPHA:85202
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Dilation of Virchow-Robin spaces, ...	ORPHA:544488
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Dry sk...	ORPHA:428
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Intellectual Developmental Disorder, X-Linked 107	Obesity, Attention deficit hyperactivity disorder	OMIM:301013
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Abnormal chorioretinal morphology, Asplenia, Congenital he...	ORPHA:564
6Q16 Microdeletion Syndrome	Obesity	ORPHA:171829
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Elevated circulating C-reactive protein co...	ORPHA:50918
Phacoanaphylactic Uveitis	Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macular edema, Vitreoretinopathy...	ORPHA:209959
Pentalogy Of Cantrell	Absent gallbladder, Tetralogy of Fallot, Polysplenia	ORPHA:1335
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Singleton-Merten Syndrome 2	Psoriasiform lesion	OMIM:616298
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Bresek Syndrome	Cryptorchidism, Alopecia, Decreased testicular size	ORPHA:85284
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Alopecia, Hyperalaninemia, Frontal hirsuti...	ORPHA:506
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity	ORPHA:1035
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Overgrowth, Obesity	OMIM:620250
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Hyperthyroidism, Increased muscle glycogen content, Pigmentary retinopathy, In...	ORPHA:502423
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Epidermal acanthosis, Elevated circulating C-reactive protein concent...	OMIM:612852
15Q24 Microdeletion Syndrome	Failure to thrive, Small for gestational age, Obesity, Decreased response to growth hormone stimu...	ORPHA:94065
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Pulmonary artery stenosis	OMIM:611812
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep...	OMIM:145350
Amyloidosis, Familial Visceral	Splenomegaly, Generalized amyloid deposition, Cholestasis, Hepatomegaly	OMIM:105200
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Epidermal acanthosis	OMIM:608649
Distal Deletion 12Q	Late onset atopic dermatitis, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset dia...	ORPHA:96149
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, Arthritis, Co...	ORPHA:2331
White Sponge Nevus 2	Epidermal acanthosis	OMIM:615785
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Obesity, Abnormal B-ty...	ORPHA:66529
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopat...	ORPHA:157850
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d...	OMIM:619517
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
African Trypanosomiasis	Hepatomegaly, Papilledema, Pericarditis, Abnormality of the endocrine system, Splenomegaly, Jaund...	ORPHA:3385
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity	ORPHA:2928
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Abnormality of Krebs cycle metabolism, Rod-cone dystrophy, Low p...	ORPHA:255210
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Obesity, Aortic ...	ORPHA:444077
Thalidomide Embryopathy	Insulin resistance, Chronic rhinitis	ORPHA:3312
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Gliosis, Small for gestational age, Truncal obesity	OMIM:300957
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thrombocytopenia, Patent ductus arteriosus, Optic atrophy, H...	ORPHA:505248
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Abdominal obesity, Hypogonadism, Delayed puberty	OMIM:300354
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Limb ataxia, Stroke-like episode, Amyloidosis, Dementia, Truncal ataxia	OMIM:105210
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Retinal detachment, Abnormal branching pattern o...	OMIM:619472
Urban-Rogers-Meyer Syndrome	Hypogonadism, Obesity	ORPHA:3409
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration, Alopecia	OMIM:135100
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal oligodendroglia morphology, Dysmetria, Gai...	ORPHA:217260
Spondyloocular Syndrome	Retinal detachment, Unilateral cryptorchidism	OMIM:605822
Angelman Syndrome	Optic disc pallor, Precocious puberty in females, Optic atrophy, Obesity, Delayed menarche, Fair ...	ORPHA:72
Alg9-Cdg	Hepatomegaly, Hepatic cysts, Periportal fibrosis, Hypoplasia of the ovary, Enlarged kidney	ORPHA:79328
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Eczema, Obesity	OMIM:620191
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Marfan Syndrome	Retinal detachment, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, Pu...	OMIM:154700
Refsum Disease	Retinopathy, Splenomegaly, Abnormality of retinal pigmentation	ORPHA:773
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411511
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Chorioretinal c...	ORPHA:2563
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity	OMIM:613192
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Ascit...	OMIM:301072
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Pancreatic cysts, Abnormality of the pancr...	ORPHA:2750
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618430
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	ORPHA:177907
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Obesity	OMIM:300055
Trisomy 8P	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Tetralogy of Fallot, Per...	ORPHA:264450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormal optic chiasm morphology, Retinal detachment, Decreased response to growth hormone stimul...	ORPHA:268261
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r...	ORPHA:79432
Aa Amyloidosis	Hepatomegaly, Cholestasis, Amyloidosis, Adrenal insufficiency, Renal amyloidosis, Hypothyroidism	ORPHA:85445
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia	OMIM:253270
Ogden Syndrome	Inguinal hernia, Maternal diabetes, Thrombocytopenia, Pulmonary artery stenosis, Patent ductus ar...	OMIM:300855
Focal Dermal Hypoplasia	Acute hepatic failure, Alopecia, Patent ductus arteriosus, Erythema, Thin skin, Abnormality of th...	ORPHA:2092
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Myeloma, Multiple	Amyloidosis, Paraproteinemia	OMIM:254500
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Satoyoshi Syndrome	Abnormal hair morphology, Nephrogenic diabetes insipidus, Sparse or absent eyelashes, Hypoplasia ...	ORPHA:3130
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Obesity	ORPHA:439822
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg...	OMIM:609136
Mixed Connective Tissue Disease	Splenomegaly, Hepatomegaly, Alopecia, Purpura	ORPHA:809
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Obesity	ORPHA:93952
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Obesity	ORPHA:3077
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Tatton-Brown-Rahman Syndrome	Patent ductus arteriosus, Obesity, Proportionate tall stature, Myeloid leukemia, Neuroendocrine n...	ORPHA:404443
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Elevated circulating creatine kinase concentration, Digital ul...	ORPHA:90291
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis, ...	OMIM:267010
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormality of skin pigmentation, Obesity	ORPHA:2180
Mucopolysaccharidosis Type 2	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Short attention span, Progressive...	ORPHA:580
Steinfeld Syndrome	Absent gallbladder, Retinal coloboma	OMIM:184705
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
13Q12.3 Microdeletion Syndrome	Chronic otitis media, Atopic dermatitis, Failure to thrive, Obesity	ORPHA:412035
Xylt1-Cdg	Hepatomegaly, Acne, Truncal obesity	ORPHA:370930
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Xp22.13P22.2 Duplication Syndrome	Truncal obesity, Attention deficit hyperactivity disorder	ORPHA:284180
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis, Acantholysis, Leukonychia, Nail dystrophy, Anonychia	ORPHA:79151
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent otitis media, Obesity, Attention deficit hyperactivity disorder	OMIM:619680
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Epidermal acanthosis, Leukonychia	OMIM:617525
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Onychol...	OMIM:601214
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata...	OMIM:617296
Joubert Syndrome 3	Pigmentary retinopathy, Lateral ventricle dilatation, Retinal dystrophy	OMIM:608629
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight	OMIM:619229
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry...	ORPHA:2309
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Chops Syndrome	Splenomegaly, Patent ductus arteriosus, Optic atrophy, Obesity, Aspiration pneumonia	OMIM:616368
Psoriasis-Related Juvenile Idiopathic Arthritis	Onycholysis, Psoriasiform lesion, Psoriasiform dermatitis, Nail pits	ORPHA:85436
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Agenesis of corpus callosum, Hypopigmentation...	ORPHA:1493
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Blue irides, Obesity	OMIM:105830
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ...	ORPHA:548
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Cryptorchidism, Patent ductus arteri...	OMIM:300166
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy, Ganglioside accumulation	ORPHA:578
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Infantile Digital Fibromatosis	Epidermal acanthosis	ORPHA:199267
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Periodontitis, Type I diabetes mellitus, Retinopathy	OMIM:619269
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment	OMIM:225400
Man1B1-Cdg	Multiple cafe-au-lait spots, Truncal obesity	ORPHA:397941
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, V...	ORPHA:649
Desbuquois Dysplasia 1	Osteoarthritis, Obesity	OMIM:251450
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Abnormal fingernail morphology	ORPHA:1647
Müllerian Aplasia And Hyperandrogenism	Acne, Obesity, Increased serum testosterone level	ORPHA:247768
Biotinidase Deficiency	Alopecia, Decreased circulating biotinidase concentration, Hyperammonemia	ORPHA:79241
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Birt-Hogg-Dubé Syndrome	Parathyroid adenoma, Abnormality of retinal pigmentation, Medullary thyroid carcinoma	ORPHA:122
Mend Syndrome	Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo...	ORPHA:401973
Cockayne Syndrome A	Hepatomegaly, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction ve...	OMIM:216400
Momo Syndrome	Overgrowth, Obesity, Retinal coloboma	OMIM:157980
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Fabry Disease	Transient ischemic attack, Anorexia, Hyperlipidemia, Cognitive impairment, Delayed puberty, Abnor...	ORPHA:324
Ectodermal Dysplasia/Short Stature Syndrome	Anonychia, Epidermal acanthosis, Nail dystrophy	OMIM:616029
Williams-Beuren Syndrome	Short attention span, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hype...	OMIM:194050
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
2Q37 Microdeletion Syndrome	Eczema, Obesity, Attention deficit hyperactivity disorder	ORPHA:1001
1P36 Deletion Syndrome	Abnormality of the spleen, Patent ductus arteriosus, Hypothyroidism, Ocular albinism, Obesity, Op...	ORPHA:1606
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Hepatic steatosis, Joint contracture of the 5th finger, Attention defic...	OMIM:619934
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Bardet-Biedl Syndrome 12	Abdominal mass, Obesity, Hypogonadism, Cognitive impairment, Rod-cone dystrophy	OMIM:615989
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Erythema, Hypoalbuminemia, Nail dystrophy, Onychogryposis	ORPHA:79396
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio...	OMIM:106260
Huriez Syndrome	Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Shox-Related Short Stature	Obesity	ORPHA:314795
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Webb-Dattani Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti...	OMIM:615926
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina...	ORPHA:2108
Megalencephaly	Truncal obesity	ORPHA:2477
Mucopolysaccharidosis Type 3	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Optic atrophy, Pi...	ORPHA:581
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Hyperthyroidism, Elevated circulating creatine kinase concentration, Incr...	OMIM:617675
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Weight loss, Diminished ability to concentrate, Dementia, Co...	OMIM:607459
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
White-Sutton Syndrome	Optic atrophy, Obesity, Rod-cone dystrophy, Iris coloboma, Vitiligo	ORPHA:468678
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Choriore...	OMIM:618733
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis	OMIM:615022
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Sparse eyebrow, Bilateral breast hypoplasia, Br...	ORPHA:69085
Occipital Horn Syndrome	Esophagitis, Jaundice, Hepatitis, Cholestasis	ORPHA:198
Immunodeficiency 7	Splenomegaly, Hepatomegaly, Patchy alopecia	OMIM:615387
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Retinal detachment, Cryptorchidism	OMIM:601776
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal circulating enzyme concentration or activity, Papilledema, Abnormality of retinal pigmen...	ORPHA:217093
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Patent ductus arteriosus, Agenesis of corpus callosum	OMIM:612582
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Patch...	OMIM:302960
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Patent ductus arteriosus, Hypopigmented skin patches, Truncal obesity, Attent...	ORPHA:2637
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis	OMIM:133200
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia, Streak ovary, Obesity	OMIM:194072
Pediatric Systemic Lupus Erythematosus	Increased circulating lactate dehydrogenase concentration, Alopecia	ORPHA:93552
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormality of the endocrine ...	ORPHA:636
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Progressive neurologic deterioration, Optic atrophy, Obesity, Cognitive impair...	OMIM:614947
Luscan-Lumish Syndrome	Recurrent otitis media, Overgrowth, Obesity	OMIM:616831
Rothmund-Thomson Syndrome Type 1	Calcinosis, Alopecia totalis, Cryptorchidism, Facial erythema, Sparse or absent eyelashes, Hypogo...	ORPHA:221008
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Amyloidosis, Finnish Type	Cardiac amyloidosis, Generalized amyloid deposition	OMIM:105120
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Ring Chromosome Y Syndrome	Male hypogonadism, Streak ovary, Obesity	ORPHA:261529
Mucopolysaccharidosis Type 2, Severe Form	Abnormal circulating enzyme concentration or activity, Papilledema, Abnormality of retinal pigmen...	ORPHA:217085
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Attention deficit hyperactivity disorder	ORPHA:261197
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Doors Syndrome	Adrenal hyperplasia, Abnormal fingernail morphology, Low anterior hairline, Double outlet right v...	ORPHA:79500
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Recurrent pneumonia, Optic atrophy, Obesity	OMIM:618493
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Abnormal epidermal morphology, Epidermal acanthosis, Nail dystrophy	ORPHA:79501
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Disproportionate tall stature, Abdominal obesity, Attention deficit hyperactivity disorder	OMIM:301039
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Cognitive impairment	ORPHA:2163
Tenorio Syndrome	Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hyp...	OMIM:616260
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Glycosuria, Rod-cone d...	OMIM:268315
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Alopecia, Peripheral pulmonary artery stenosis	OMIM:613001
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair	OMIM:613451
Vascular Ehlers-Danlos Syndrome	Redundant skin, Alopecia, Peripheral arteriovenous fistula, Abnormal eyelash morphology, Cryptorc...	ORPHA:286
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko l...	OMIM:210720
Cockayne Syndrome B	Hepatomegaly, Small for gestational age, Abnormal auditory evoked potentials, Decreased nerve con...	OMIM:133540
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Epidermal acanthosis	OMIM:613943
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Agenesis of corpus callosum, Obesity	ORPHA:96147
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Delayed puberty	ORPHA:2510
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Xeroderma Pigmentosum	Alopecia, Cryptorchidism, Erythema, Hypogonadism, Thin skin, Dry skin, Decreased testicular size	ORPHA:910
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Osteomyelitis, Pigmentary retinopathy, Abnormal sensory ...	ORPHA:88628
Congenital Myopathy 9A	Obesity	OMIM:618822
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Rothmund-Thomson Syndrome Type 2	Calcinosis, Alopecia totalis, Cryptorchidism, Erythema, Facial erythema, Sparse or absent eyelash...	ORPHA:221016
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Tetralogy of Fallot	OMIM:617925
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic...	ORPHA:744
Abeta Amyloidosis, Dutch Type	Cerebral hemorrhage, Cerebral amyloid angiopathy, Dementia, Stroke, Mental deterioration	ORPHA:100006
Kleefstra Syndrome	Chronic otitis media, Agenesis of corpus callosum, Obesity	ORPHA:261494
Palmoplantar Carcinoma, Multiple Self-Healing	Epidermal acanthosis, Nail dystrophy	OMIM:615225
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Trisomy 18	Cognitive impairment, Abnormality of retinal pigmentation, Iris coloboma, Cachexia	ORPHA:3380
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Bilateral crypto...	OMIM:263650
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Corneal scarring...	OMIM:301220
Borjeson-Forssman-Lehmann Syndrome	Truncal obesity, Hypogonadism	ORPHA:127
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Chronic Actinic Dermatitis	Epidermal acanthosis	ORPHA:330064
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
X-Linked Intellectual Disability, Cabezas Type	Hypogonadism, Obesity, Cachexia	ORPHA:85293
Tetrasomy 9P	Absent gallbladder, Juxtaductal coarctation of the aorta, Abnormal chorioretinal morphology, Cryp...	ORPHA:3310
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Stickler Syndrome	Retinal detachment, Abnormal vitreous humor morphology	ORPHA:828
3Q29 Microduplication Syndrome	Aniridia, Iris coloboma, Obesity	ORPHA:251038
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati...	OMIM:618500
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Facial palsy, Obesity, Pineal cyst, Trunca...	OMIM:615873
Zttk Syndrome	Absent gallbladder, Patent ductus arteriosus, Optic atrophy	OMIM:617140
Sarcoidosis	Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypertension, ...	ORPHA:797
Rothmund-Thomson Syndrome	Calcinosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Spars...	ORPHA:2909
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Agenesis of corpus callosum	ORPHA:1496
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Dyskeratosis Congenita, Digenic	Decreased testicular size, Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis	OMIM:148600
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:192
Carney Complex	Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Euthyroid multinodular goiter, F...	ORPHA:1359
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Achondroplasia	Obesity	ORPHA:15
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Obesity, Abnormal optic disc morphology, Chronic otitis media, Cafe-au-...	ORPHA:96121
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Failure to thrive, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Kleefstra Syndrome 1	Obesity	OMIM:610253
Wagro Syndrome	Aniridia, Obesity	OMIM:612469
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal eyelash morphology, Coarctation of aorta, Abnormal aortic morphology, Interrup...	ORPHA:2396
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Epidermal acanthosis	OMIM:615735
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D...	ORPHA:478
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:616562
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Usher Syndrome	Abnormality of retinal pigmentation, Cognitive impairment	ORPHA:886
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder, Recurrent otitis m...	OMIM:619426
Periodic Fever, Familial, Autosomal Dominant	AA amyloidosis, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious ...	ORPHA:363958
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Cryptorchidism, Pterygium of nails, Prematur...	OMIM:305000
Hydrolethalus Syndrome 1	Accessory spleen, Adrenal gland dysgenesis	OMIM:236680
Khan-Khan-Katsanis Syndrome	Failure to thrive, Patent ductus arteriosus after premature birth, Pigmentary retinopathy, Colpoc...	OMIM:618460
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Congenital hypertrophy ...	ORPHA:733
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Epidermal acanthosis	OMIM:618527
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Autosomal Recessive Robinow Syndrome	Alopecia, Cryptorchidism, Abnormal aortic morphology, Long eyelashes, Fingernail dysplasia, Tetra...	ORPHA:1507
Ring Chromosome 13 Syndrome	Retinoblastoma, Hypoplasia of the gallbladder, Abnormal retinal morphology	ORPHA:96176
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Transient ischemic attack, Optic nerve hypoplasia, Patent ductus arteriosus a...	ORPHA:500150
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis	ORPHA:38
Alzheimer Disease 4	Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Memory impa...	OMIM:606889
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Localized Scleroderma	Abnormal skin adnexa morphology, Vasculitis, Erythema, Patchy alopecia, Stroke, Hashimoto thyroid...	ORPHA:90289
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th...	ORPHA:70591
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis	OMIM:610227
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Witteveen-Kolk Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Eczema, Dysplas...	OMIM:613406
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Truncal obesity, Obesity, Attention deficit hyperactivity disorder	ORPHA:466950
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Retinal pigment epithelial m...	OMIM:251260
Intellectual Developmental Disorder, Autosomal Dominant 29	Obesity, Attention deficit hyperactivity disorder	OMIM:616078
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Abnormality of the thyroid gland, Melanocytic nevu...	ORPHA:1969
Rubinstein-Taybi Syndrome 1	Accessory spleen, Short attention span, Small for gestational age, Premature thelarche, Patent du...	OMIM:180849
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis	OMIM:615023
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma, Hypophosphatemic rickets	ORPHA:2874
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Alopecia, Erythema, Skin ulcer, Onycholysis, Nail dystrophy, Skin ...	ORPHA:99921
Lowry-Wood Syndrome	Pigmentary retinopathy, Small for gestational age	OMIM:226960
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short attention span, Eczema, Optic disc coloboma, Obesity, Pseudohypoparathyroidism, Failure to ...	OMIM:617157
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Obesity, Failure to thrive	ORPHA:369950
Trichotillomania	Alopecia	OMIM:613229
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Abnormal blood ion concentration, Nail dystrophy, Anonychia, Abnormality of...	ORPHA:79404
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Hypopi...	ORPHA:2556
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Peters-Plus Syndrome	Bilobate gallbladder, Cryptorchidism, Patent ductus arteriosus, Biliary tract abnormality, Retina...	OMIM:261540
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity, Attention deficit hyperactivity disorder	ORPHA:466943
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D...	ORPHA:466768
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Freckling	OMIM:610651
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus,...	OMIM:613610
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Obesity	OMIM:618653
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai...	ORPHA:3107
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Adnp Syndrome	Truncal obesity, Iris coloboma, Attention deficit hyperactivity disorder	ORPHA:404448
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Ulnar-Mammary Syndrome	Obesity, Delayed puberty	ORPHA:3138
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Patent ductus arteriosus, Obesity, Social and occupational deterioration, Otitis media...	ORPHA:353281
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Dementia, Ataxia, Cerebral amyloid angiopathy	OMIM:117300
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Obesity	OMIM:250420
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Recurrent otiti...	ORPHA:1772
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Pulmonary artery stenosis, Small nail, Tetralogy of Fallot	OMIM:100300
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum	ORPHA:2612
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Dementia, Progressive neurologic deterioration, Cerebral amyloid angiopathy	OMIM:176500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis, Agenesis of corpus callosum	ORPHA:93271
Kabuki Syndrome	Precocious puberty, Failure to thrive, Obesity	ORPHA:2322
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Patent ductus arteriosus, Optic disc coloboma, Optic atrophy, Obesity, Congeni...	OMIM:607872
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Patent ductu...	ORPHA:529962
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Colpocephaly, Agenesis of corpus callosum, Iris coloboma	OMIM:309801
Primrose Syndrome	Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent...	OMIM:259050
Acys Amyloidosis	Amyloidosis, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Dementia, Mental deterioration, Retinal de...	OMIM:234200
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Abnormal circulating calcium-phosphate regulating ho...	ORPHA:2636
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal...	OMIM:249000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Pneumonia, Patent ductus arteriosus, Obesity, Social and o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Pneumonia, Patent ductus arteriosus, Obesity, Social and o...	ORPHA:353277
Myhre Syndrome	Patent ductus arteriosus, Small for gestational age, Obesity	OMIM:139210
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
6Q Terminal Deletion Syndrome	Colpocephaly, Failure to thrive, Obesity	ORPHA:75857
Monosomy 22Q13.3	Recurrent skin infections, Recurrent pyelonephritis, Agenesis of corpus callosum, Obesity	ORPHA:48652
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Carpenter Syndrome 2	Patent ductus arteriosus, Obesity	OMIM:614976
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Ramon Syndrome	Optic disc pallor, Juvenile rheumatoid arthritis, Pigmentary retinopathy, Decreased body weight	OMIM:266270
Cornelia De Lange Syndrome	Truncal obesity, Attention deficit hyperactivity disorder, Delayed puberty, Failure to thrive, Bl...	ORPHA:199
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
1P21.3 Microdeletion Syndrome	Obesity	ORPHA:293948
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Optic atrophy, Hypogonadism, Obesity	OMIM:309580
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Obesity, Anterior pituitary hypoplasia, Delayed puberty	OMIM:181450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Truncal obesity, Patent ductus arteriosus, Failure to thrive	OMIM:612474

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 Ldlr

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 Ldlr.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ldlrad4^{tm1b(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Ldlrad4^{tm1b(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ldlrad4^{tm1b(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ldlrad4^{tm1b(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ldlrad4^{tm1b(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Ldlr^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ldlr^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ldlr^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ldlr^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ldlr^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ldlr^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ldlr MGI:96765

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Ldlr mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data