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Gene: Fgd5 MGI:2443369

Gene Summary

Name:

FYVE, RhoGEF and PH domain containing 5

Synonyms:

ZFYVE23, C330025N11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Fgd5^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged spleen	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina blood vessel morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	8.35×10^-06
decreased thigmotaxis	Fgd5^em1(IMPC)Mbp	HET	Early adult	8.33×10^-07
increased red blood cell distribution width	Fgd5^em1(IMPC)Mbp	HET	Early adult	5.69×10^-10
prenatal lethality prior to heart atrial septation	Fgd5^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
small testis	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
small liver	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal testis morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Fgd5^em1(IMPC)Mbp	HET	Early adult	4.06×10^-05
abnormal neural tube morphology	Fgd5^em1(IMPC)Mbp	HET	E9.5	0.00
abnormal behavior	Fgd5^em1(IMPC)Mbp	HET	Early adult	7.41×10^-07
decreased locomotor activity	Fgd5^em1(IMPC)Mbp	HET	Early adult	3.75×10^-10
decreased circulating cholesterol level	Fgd5^em1(IMPC)Mbp	HET	Early adult	1.89×10^-06
abnormal liver morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal heart morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina vasculature morphology	Fgd5^em1(IMPC)Mbp	HET	Early adult	1.28×10^-05
decreased circulating glucose level	Fgd5^em1(IMPC)Mbp	HET	Early adult	8.85×10^-05
enlarged heart	Fgd5^em1(IMPC)Mbp	HET	Early adult	0.00
decreased prepulse inhibition	Fgd5^em1(IMPC)Mbp	HET	Early adult	2.01×10^-06
abnormal placenta morphology	Fgd5^em1(IMPC)Mbp	HET	E15.5	0.00
increased heart weight	Fgd5^em1(IMPC)Mbp	HET	Early adult	1.33×10^-13
preweaning lethality, complete penetrance	Fgd5^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta vasculature	Fgd5^em1(IMPC)Mbp	HET	E15.5	0.00
decreased anxiety-related response	Fgd5^em1(IMPC)Mbp	HET	Early adult	5.08×10^-05

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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

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

3 Images

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Human diseases caused by Fgd5 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 Fgd5 (0 diseases)
Human diseases predicted to be associated with Fgd5 (611 diseases)

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

The table below shows human diseases predicted to be associated to Fgd5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu...	OMIM:619902
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance	ORPHA:2274
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Irritabi...	ORPHA:231226
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, N...	OMIM:608836
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly, Cardiomyopathy, Pigmentary retinopathy	OMIM:609016
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Inability...	OMIM:617303
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:232200
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Macrocytic dyserythropoietic a...	OMIM:224120
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler...	OMIM:235200
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,...	OMIM:616959
Congenital Toxoplasmosis	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Lymphade...	ORPHA:858
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit...	OMIM:276700
Squalene Synthase Deficiency	Irritability, Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, ...	OMIM:618156
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Seconda...	OMIM:613313
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Irritability, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hep...	ORPHA:369
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica...	OMIM:604273
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thro...	ORPHA:79312
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Spastic gait, Diabetes insipidus, Depression, Neurogenic bladder, Elevated circula...	ORPHA:96180
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	OMIM:615558
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Retinal dystrophy, Elevated urine trihydroxycholestanoic acid level, E...	OMIM:266510
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:607765
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul...	OMIM:618278
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Sea-blue his...	OMIM:607616
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig...	OMIM:613885
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Mantle Cell Lymphoma	Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:52416
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c...	ORPHA:14
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Cardiom...	OMIM:222300
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnitine concentration, Impaired gluc...	OMIM:212140
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Macular dystrophy, Abnormal retinal morphology on macular OCT, ...	ORPHA:251004
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Increased circulating iron con...	OMIM:602390
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen...	ORPHA:42
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Delayed puberty, Tubu...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Pancreatitis, Renal insufficiency, Hyperamylasemia, Hyperalaninemia, Elevated circulati...	OMIM:619386
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inve...	OMIM:602088
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Hypocholesterolemia, Pericardial effusion, Sp...	OMIM:608776
H Syndrome	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Abnormality of the kidney, Lymphadenopath...	ORPHA:168569
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatocellula...	ORPHA:465508
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Agitation, Hepatomegaly, Hyperinsulinemia, Neonatal hypoglycemia, Hypoketo...	ORPHA:324575
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Abnormal renal morphology, Patent foramen ovale, Hypoch...	OMIM:610883
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Cardi...	OMIM:212065
Sandhoff Disease	Cherry red spot of the macula, Hepatomegaly, Ataxia, Splenomegaly	ORPHA:796
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia	OMIM:602079
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Adrenocortical carcinoma, Ren...	OMIM:130650
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal in...	ORPHA:731
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Inability to walk, Patent foramen ovale, Hypertrophic car...	ORPHA:505248
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Retinal degeneration, Loss of ambulat...	ORPHA:391428
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Beta-Thalassemia	Irritability, Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic...	ORPHA:848
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hemolytic anemia	OMIM:615010
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, ...	OMIM:612126
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Retinopathy,...	OMIM:603903
Classic Galactosemia	Delayed puberty, Elevated circulating hepatic transaminase concentration, Abnormal erythrocyte en...	ORPHA:79239
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hydrocele testis	OMIM:618810
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyp...	OMIM:255120
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Irritability, Normocytic anemia, Glomerular sclerosis, Normochromic anemia, Depression, Retinal n...	ORPHA:247691
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Hsd10 Mitochondrial Disease	Optic atrophy, Agitation, Hypertrophic cardiomyopathy, Retinal degeneration, Restlessness, Choreo...	OMIM:300438
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Decreas...	OMIM:201475
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, 3-Methylglutaconic aciduria, Limb ataxia, Increased hepatic glycogen content, Depr...	OMIM:619259
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Orotic Aciduria	Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, A...	ORPHA:98870
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Agitation, Neonatal hypoglycemia, Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hy...	OMIM:619046
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure...	OMIM:278000
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Reduced sperm motility, Splenomegaly, Retinal degeneratio...	OMIM:602271
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan s...	OMIM:252920
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Hyperalaninemia, Elevated circulating alanine aminotransfe...	OMIM:619048
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati...	OMIM:615234
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hyperinsulinemia, Hypokalemia, Long penis, H...	ORPHA:508
Babesiosis	Anorexia, Hepatomegaly, Jaundice, Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Renal i...	ORPHA:108
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hypog...	OMIM:617872
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating hepatic ...	ORPHA:158057
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Glucose intolerance, Cholestasis, Impaired glucose tolerance, Ret...	OMIM:615630
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Hyper...	OMIM:614702
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Alg9-Cdg	Irritability, Enlarged kidney, Hepatomegaly, Atrial septal defect, Periportal fibrosis, Hypoplasi...	ORPHA:79328
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho...	OMIM:616217
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A...	ORPHA:251380
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastom...	OMIM:253250
Attrv30M Amyloidosis	Vitreous floaters, Cardiomyopathy, Impotence, Abnormal renal physiology, Cardiomegaly, Nephropathy	ORPHA:85447
Niemann-Pick Disease, Type A	Irritability, Hepatomegaly, Sea-blue histiocytosis, Lymphadenopathy, Inability to walk, Bone-marr...	OMIM:257200
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d...	OMIM:619170
Alg12-Cdg	Biventricular hypertrophy, Muscular ventricular septal defect, Elevated circulating hepatic trans...	ORPHA:79324
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti...	OMIM:200995
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic trans...	ORPHA:264580
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp...	ORPHA:75234
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Type I diabetes mellitus, Thrombocytopenia, Splenomegaly, Abnorma...	ORPHA:290
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:2394
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Hepatomegaly, Gait ataxia, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis...	OMIM:616719
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Bicuspid aortic valve, Cardiomegaly, Irritab...	OMIM:300855
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper...	OMIM:214900
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Increased hepatocellular li...	ORPHA:71
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Atax...	OMIM:266500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine, Card...	ORPHA:228308
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Galactokinase Deficiency	Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in...	ORPHA:79237
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Long-Olsen-Distelmaier Syndrome	Optic nerve hypoplasia, Hypoglycemia, Elevated circulating alanine aminotransferase concentration...	OMIM:620609
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Renal amyloi...	OMIM:105200
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Difficulty walking, Elevated circulating hepatic transaminase concentrat...	OMIM:300280
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Gait disturbance, Ataxia, Splenomegaly, Unsteady ga...	ORPHA:2585
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly, Adrenal calcification	OMIM:620151
Myopathy With Extrapyramidal Signs	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypervaline...	OMIM:615673
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia...	ORPHA:79301
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Ataxia	OMIM:231000
Glycogen Storage Disease Ixb	Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia	OMIM:261750
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,...	OMIM:618838
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hyperactivity, Bifid scrotum, Splenomegaly, Small scrotum, Septate vag...	OMIM:270400
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Coloboma, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ven...	OMIM:618652
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, A...	ORPHA:294
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas...	ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega...	OMIM:267700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Sialidosis Type 2	Hepatomegaly, Ascites, Ataxia, Splenomegaly, Abnormal macular morphology, Nephropathy	ORPHA:87876
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency 27A	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:209950
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iij	Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, A...	OMIM:613489
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Optic atrophy, Renal steatosis, Hepatomegaly, Fasting hypoglycemia, Elevated circulati...	OMIM:261680
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:613101
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Elevated circulating hepatic transaminase concentration, Unilateral ...	OMIM:216360
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se...	ORPHA:79083
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Organic aciduria, Hyperammonemia, Hypoglycemia	ORPHA:35
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anor...	ORPHA:77259
Leishmaniasis	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphade...	ORPHA:507
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism	ORPHA:88643
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A...	ORPHA:2133
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Focal segmental glomerulosclerosis, Cryptorchidism, Nephrotic...	OMIM:617575
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Neonatal hypoglycemia, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Per...	OMIM:261740
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Decreased testicular size, Ataxia, Splenomegaly, ...	OMIM:201100
Mucolipidosis Ii Alpha/Beta	Tip-toe gait, Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic ca...	OMIM:252500
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Gait disturbance, Type II diabete...	ORPHA:481
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Abnormal chorioretinal morphology, Hepatomegaly, Hypoketotic hypoglyce...	ORPHA:5
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Neonatal hypoglycemia, Dicarboxylic aciduria, Elevated circulating hepatic transami...	OMIM:212138
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis...	ORPHA:57777
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Elevated...	OMIM:614921
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Small scr...	OMIM:612651
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Cherry red spot of the macula, Splenomegaly	OMIM:228000
Optic Atrophy 11	Optic atrophy, Hyperactivity, Optic nerve hypoplasia, Athetosis, Mildly elevated creatine kinase,...	OMIM:617302
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr...	ORPHA:156
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Impotence, Increased urinary N-acetylglucosamine-rich oligosa...	OMIM:268800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopath...	OMIM:619051
Helsmoortel-Van Der Aa Syndrome	Irritability, Enlarged kidney, Decreased response to growth hormone stimulation test, Hyperactivi...	OMIM:615873
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Depression, Cardiomyopathy, Compulsive behaviors, Elevat...	OMIM:300842
Mody	Abnormality of the kidney, Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-...	ORPHA:552
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ret...	ORPHA:500095
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure	ORPHA:664
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Jaundice, Elevated circulating hepatic transaminase concentra...	OMIM:603553
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Glomerulopathy, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrop...	ORPHA:2348
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly	ORPHA:391
Mucopolysaccharidosis Type 3	Hyperactivity, Abnormal mitral valve morphology, Ataxia, Splenomegaly, Dysphagia, Adenoiditis, Ca...	ORPHA:581
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, In...	ORPHA:100924
Joubert Syndrome 33	Cone/cone-rod dystrophy, Ataxia, Splenomegaly	OMIM:617767
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Free Sialic Acid Storage Disease	Hepatomegaly, Athetosis, Ascites, Gait disturbance, Nephrotic syndrome, Ataxia, Splenomegaly, Pro...	ORPHA:834
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Mogs-Cdg	Optic atrophy, Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secr...	ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hypoglycemia, Hyperammon...	OMIM:620454
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Cardiomyopathy, Hypoglycemia...	OMIM:251000
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Delayed puberty, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration...	OMIM:616834
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Argininuria, Elevated circulating hepatic transaminase concent...	ORPHA:470
Sea-Blue Histiocytosis	Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia,...	ORPHA:158029
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen...	ORPHA:398124
8P11.2 Deletion Syndrome	Retinal dystrophy, Hypoplasia of penis, Azoospermia, Spherocytosis, Abnormality of the hypothalam...	ORPHA:251066
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Neutropenia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymp...	OMIM:308240
Muckle-Wells Syndrome	Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Renal amy...	ORPHA:575
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreas...	ORPHA:77293
Whipple Disease	Polydipsia, Anorexia, Myocarditis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Erectile dy...	ORPHA:3452
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Hyperactivity, Acute lymphoblastic leukemia, Hypocholesterolemia, C...	OMIM:223370
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Hepatomegaly, Anemia,...	OMIM:251110
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Adrenal insufficiency, Spleno...	ORPHA:75233
Legionnaires Disease	Anorexia, Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow...	ORPHA:549
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Steppage gait, Inability to walk, Abnormal atrioventricular valve morphology, Aortic valve stenos...	ORPHA:324410
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Hypoglycem...	OMIM:601005
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated c...	OMIM:617713
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati...	OMIM:269700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia...	OMIM:614866
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Dysphagia, Splenomegaly, Rod-cone dys...	OMIM:252930
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Pancre...	ORPHA:1655
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Lesch-Nyhan Syndrome	Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Self-injurious...	OMIM:300322
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Akinesia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Dysp...	OMIM:608013
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, In...	ORPHA:309854
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Macular atrophy, Thrombocytopenia, Spl...	OMIM:230800
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Increased circulating T4 concentration, Jaundice, Elevated circulating ...	ORPHA:525731
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Immunodeficiency 32B	Hepatomegaly, Anemia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia...	OMIM:226990
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Premature pubarche, Elevated circulating hepatic transaminase concentration, Oral-...	OMIM:616878
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Bone marrow hypocellularity, Leukopenia,...	OMIM:615688
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Vitreou...	OMIM:620185
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Hypocholesterolemia, Atrial septal defect, Ventricular septal defect, Optic...	OMIM:244450
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Cystinosis, Nephropathic	Polydipsia, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Retinopathy, Sple...	OMIM:219800
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr...	OMIM:313200
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept...	OMIM:312870
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Infantile Liver Failure Syndrome 2	Jaundice, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hyperammonemia...	OMIM:616483
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone ...	OMIM:239200
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir...	ORPHA:540
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen...	OMIM:235555
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inability to walk, Gait disturbance, Inappropriate laughter, Ataxia, Cardiomegaly, ...	OMIM:618143
Proteus Syndrome	Retinal hamartoma, Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes i...	ORPHA:744
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Hypo...	OMIM:235255
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Macro...	OMIM:615512
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, H...	OMIM:612783
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Secondary hyperaldost...	ORPHA:90363
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc...	ORPHA:457077
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Abnormal heart morpholog...	ORPHA:79282
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Urinary incontinence, Truncal ataxia, Cardiomyopathy, Impotence, Ataxia, Cardiomegal...	OMIM:105210
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Ataxia, Splenomeg...	ORPHA:33226
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Retinopathy, Leukopenia, Splenomegaly, ...	ORPHA:355
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Lethargy	OMIM:229700
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Heparan sulfate excreti...	OMIM:252900
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly	ORPHA:349
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Difficulty wal...	OMIM:232300
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, H...	OMIM:259720
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Glycosuria, ...	OMIM:616026
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:605911
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomega...	ORPHA:91138
Isolated Biliary Atresia	Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami...	ORPHA:30391
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Q Fever	Anorexia, Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hem...	ORPHA:781
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Ocular albinism, Gait disturba...	OMIM:214500
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Fish-Eye Disease	Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly	ORPHA:79292
Beck-Fahrner Syndrome	Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect, Depression	OMIM:618798
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, V...	OMIM:615895
Histiocytoid Cardiomyopathy	Optic atrophy, Hepatomegaly, Hypoglycemia, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricu...	ORPHA:137675
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Hypothyroidism, Renal agenesis...	OMIM:618440
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre...	OMIM:610199
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Hepatomegaly, Sea-blue histiocytosis, Gait disturbance, Ataxia, Dysphagia, Splenom...	OMIM:230600
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Spinocerebellar Ataxia 32	Infertility, Ataxia, Testicular atrophy, Azoospermia	OMIM:613909
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic seizures...	ORPHA:289157
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-b...	OMIM:277900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Renal artery stenosis, R...	OMIM:617913
Brucellosis	Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anorexia, Myocarditis, Depression, Ch...	ORPHA:1304
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Niemann-Pick Disease, Type C1	Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau...	OMIM:257220
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia	ORPHA:276183
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Abnormality of iron homeost...	ORPHA:84064
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem...	OMIM:300972
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, ...	ORPHA:77261
Fucosidosis	Spastic gait, Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cherry red spo...	OMIM:230000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Inability to walk, Pollakisuria, Elevated circulating creatine kinase concentration...	ORPHA:268
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Biotinidase Deficiency	Optic atrophy, Hepatomegaly, Organic aciduria, Hyperammonemia, Ataxia, Splenomegaly, Lethargy	OMIM:253260
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Vitreous hemorrhage, Pancreatitis, Retinal arterial tortuosity, Inability to walk, Splenic cyst, ...	OMIM:620371
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Trichohepatoenteric Syndrome 1	Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, I...	OMIM:222470
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemo...	ORPHA:158048
Multiple Sulfatase Deficiency	Hepatomegaly, Mucopolysacchariduria, Ataxia, Splenomegaly, Retinal degeneration	OMIM:272200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c...	ORPHA:231736
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Inability to walk, Cholelithiasis, Coloboma, Retinal atrophy, Ca...	ORPHA:97297
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbi...	OMIM:608885
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Impotence, Aggressive behavior, Decrease...	ORPHA:273
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Mucopolysaccharidosis Type 2	Hyperactivity, Cardiomyopathy, Impulsivity, Retinopathy, Abnormal mitral valve morphology, Abnorm...	ORPHA:580
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Lacticaciduria, Hyperalaninemi...	OMIM:252010
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit...	ORPHA:131
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Second...	ORPHA:280365
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Nephrolithiasis, Impaired glucos...	OMIM:219090
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Jaundice, Low plasma citrulline, Hyperalaninemi...	OMIM:615751
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	ORPHA:308552
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Aicardi-Goutières Syndrome	Irritability, Difficulty walking, Elevated circulating hepatic transaminase concentration, Chroni...	ORPHA:51
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female...	ORPHA:85138
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator...	ORPHA:186
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,...	ORPHA:565612
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosi...	ORPHA:904
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Elevated circulating hepatic transaminase concentration, R...	ORPHA:191
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Spl...	ORPHA:37042
Chops Syndrome	Optic atrophy, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Anomalous ...	OMIM:616368
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigable weakness of respiratory muscles, Hepatomegaly, Difficulty walking, Inability to walk, E...	ORPHA:365
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Retinopathy, Abnormal heart...	ORPHA:353281
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Bradykinesia, Premature ovarian insufficiency, Depression, Secondary amenorrhea, Hypergonadotropi...	OMIM:157640
Camurati-Engelmann Disease	Anorexia, Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Optic nerve compression, Waddling...	ORPHA:1328
Behçet Disease	Anorexia, Irritability, Glomerulopathy, Pancreatitis, Lymphadenopathy, Optic neuritis, Gait distu...	ORPHA:117
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretina...	OMIM:120200
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentrati...	OMIM:617591
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Ascites, Leukocytosis, Nephrotic syndrome, Pericarditi...	ORPHA:342
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H...	OMIM:256040
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Elevated circulating hepatic transaminase c...	ORPHA:90324
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Abnormal temper tantrums, Limb ataxia, Anemia, Cholelithiasis, Pancytopenia, Azo...	ORPHA:2072
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Crimean-Congo Hemorrhagic Fever	Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A...	ORPHA:99827
Glycogen Storage Disease Ic	Delayed puberty, Xanthelasma, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chro...	OMIM:232240
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect,...	OMIM:300967
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Aicardi-Goutieres Syndrome 7	Irritability, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, H...	OMIM:615846
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Hypoproteinemia, Retinal hemorrhage, Remnants of the hy...	OMIM:609049
Kikuchi-Fujimoto Disease	Anorexia, Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ane...	ORPHA:50918
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Generalized Arterial Calcification Of Infancy	Irritability, Hypophosphatemic rickets, Choroidal neovascularization, Angioid streaks of the fund...	ORPHA:51608
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Renal cyst, Retinopathy, Hyperechogenic kidneys, Dysphagia, Splenom...	OMIM:615636
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:229600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula	ORPHA:309246
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, B lymphocy...	OMIM:102700
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
African Trypanosomiasis	Urinary incontinence, Abnormality of the endocrine system, Optic neuritis, Impotence, Abnormal gr...	ORPHA:3385
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Iris coloboma, Accessory spleen, Polycyst...	OMIM:249000
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Hyperammonemia, Leukopenia,...	OMIM:222700
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Microphthalmia, Syndromic 2	Iris coloboma, Hypospadias, Dextrocardia, Retinal detachment, Ventricular septal defect, Remnants...	OMIM:300166
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati...	OMIM:619525
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Inability to walk, Truncal ataxia, Partial atrioventricular canal defect, ...	OMIM:620066
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Hypocalcemic seizures, Hepatomegaly, Anemia, Optic nerve compression, Splenomegaly	OMIM:612301
Norrie Disease	Abnormal chorioretinal morphology, Irritability, Optic atrophy, Abnormal vitreous humor morpholog...	ORPHA:649
Sarcoidosis, Susceptibility To, 1	Anorexia, Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary ...	OMIM:181000
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Abnormal optic nerve morphology, Ret...	ORPHA:90340
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo...	OMIM:153670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina...	OMIM:614643
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp...	ORPHA:29073
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Digeorge Syndrome	Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Hypocalcemia, Truncus ...	OMIM:188400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ...	ORPHA:353277
Persistent Hyperplastic Primary Vitreous	Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas...	ORPHA:91495
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Reynolds Syndrome	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cal...	OMIM:613471
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Inability to walk, Abnormality of the Leydig cells, Unsteady gait, C...	ORPHA:3063
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Remnants of the hyaloid vascular system, Abnormal optic nerve morphology, Epir...	ORPHA:637
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Renal artery stenosis, Ventricular septal defect, Cardiomyopat...	ORPHA:3472
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Holoprosencephaly 2	Cyclopia, Iris coloboma, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Rem...	OMIM:157170
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Neuroocular Syndrome	Patent foramen ovale, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Lens colo...	OMIM:619539
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Car...	OMIM:182250

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Liver - MPATH pathological process term hypoplasia	Fgd5^em1(IMPC)Mbp	HET		Early adult

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 Fgd5.

No publications found that use IMPC mice or data for Fgd5.

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MGI Allele	Allele Type	Produced
Fgd5^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Fgd5^{tm42375(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fgd5^{tm42375(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fgd5^{tm42375(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Fgd5 MGI:2443369

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E9.5

Gross Morphology Embryo E9.5

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Fgd5 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data