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Gene: Apobec1 MGI:103298

Gene Summary

Name:

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small spleen	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal digit morphology	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.61×10^-05
enlarged heart	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
hyperactivity	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.64×10^-05
abnormal spleen morphology	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased startle reflex	Apobec1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.55×10^-06

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Human diseases caused by Apobec1 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 Apobec1 (0 diseases)
Human diseases predicted to be associated with Apobec1 (601 diseases)

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

The table below shows human diseases predicted to be associated to Apobec1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ...	DECIPHER:39
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Dystonia	ORPHA:139406
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga, Hypertrophic car...	OMIM:620270
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph...	ORPHA:417
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly	DECIPHER:8
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C...	OMIM:602390
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro...	OMIM:610539
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hepatic fibrosis, Hypogonadism,...	OMIM:613313
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Ad...	ORPHA:89844
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sc...	OMIM:602271
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h...	OMIM:252920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Prominent fingertip pads, Hyperactivity, Nail-biting, Decreased response to growth...	ORPHA:485405
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Metaphyseal irregularity	OMIM:269920
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dystonia, Dysphagia	ORPHA:77260
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Prominent fingertip pads, Splenomegaly, Self-injurious behavior, Clinodactyly of th...	OMIM:615637
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism...	ORPHA:3306
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic bridging fibrosis	OMIM:616719
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Recurrent hand f...	OMIM:300624
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Sandal gap, Splenomegaly, Ascites, Anemia	ORPHA:1046
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Eosinoph...	OMIM:616651
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Tremor, Hypoth...	OMIM:222300
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Rocker bottom foot, Cryptorchidi...	OMIM:617053
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Hepatomegaly, Hyperactivity, Dystonia	OMIM:615924
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Anorexia, Splenomegaly, Anemia, Cardiomyopathy, Choreoathetosis, Neutrope...	ORPHA:79312
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot ...	OMIM:616589
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Micropenis, Slender long bone, Hypoplastic spleen, Ascites, Brachyda...	OMIM:602361
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal meta...	ORPHA:465508
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr...	OMIM:300280
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Immunodeficiency 27A	Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosple...	OMIM:209950
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavi...	ORPHA:228402
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Aarskog-Scott Syndrome	Short palm, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease,...	OMIM:305400
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	OMIM:620010
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Tremor, Cryptorchidism, Small hand, ...	OMIM:300354
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea...	OMIM:618652
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma, Cardiomegaly	OMIM:613576
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short lon...	OMIM:617022
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav...	ORPHA:3077
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Babesiosis	Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Anorexia, Splenomegaly, Jaundice, Le...	ORPHA:108
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul...	OMIM:228000
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Stankiewicz-Isidor Syndrome	Hyperactivity, Hypospadias, Truncus arteriosus, Ventricular septal defect, Absent thumb, Cryptorc...	OMIM:617516
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal...	OMIM:614613
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular...	OMIM:616028
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia, Short 5th metacarpal	ORPHA:66518
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy	OMIM:601163
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cholestasis, C...	OMIM:615630
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Cantu Syndrome	Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga...	OMIM:239850
Congenital Rubella Syndrome	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Ty...	ORPHA:290
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Cardiomegaly	ORPHA:88643
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve...	ORPHA:324410
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Inappropriate antidiuretic hormo...	ORPHA:79330
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Abnormal repetitiv...	OMIM:600430
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Cardiomegaly	ORPHA:85447
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Hyperactivity, Ventricular septal defect, Dextrocardia, Cryptorchidism, Long f...	OMIM:614294
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Mulibrey Nanism	Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con...	OMIM:253250
Myotonic Dystrophy 1	Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy	OMIM:160900
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Wilson Disease	Hepatomegaly, Abnormality of the hand, Abnormality of the menstrual cycle, Aggressive behavior, T...	ORPHA:905
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Fg Syndrome 3	Cryptorchidism, Hyperactivity, Broad hallux, Broad thumb	OMIM:300406
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Opsismodysplasia	Hepatomegaly, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone, Abnormal...	ORPHA:2746
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Impotence	OMIM:268800
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Areflexia of upper limbs, Splenomegaly, Dilated cardiomyopathy, Car...	OMIM:300842
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Distal Duplication 17Q	Accessory spleen, Hallux valgus, Hyperactivity, Rhizomelia, Arachnodactyly, Overlapping toe, Cryp...	ORPHA:3379
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat...	ORPHA:507
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Hyperactivity, Hypospadias, Ventricular septal defect, Sanda...	ORPHA:254346
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Lesch-Nyhan Syndrome	Dystonia, Megaloblastic anemia, Hip dislocation, Opisthotonus, Choreoathetosis, Self-injurious be...	OMIM:300322
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly	ORPHA:309155
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Hypospadias, Ventricular septal defect, Fractured radius, Cardiomegaly, Decreased fi...	OMIM:616897
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp...	ORPHA:464329
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Agitation, Cardiomyopathy	OMIM:619046
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega...	OMIM:618143
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Seckel Syndrome 1	Ivory epiphyses, Pancytopenia, Hyperactivity, Hypospadias, Single transverse palmar crease, Abnor...	OMIM:210600
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmonic stenosis, Att...	OMIM:620141
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea	OMIM:607765
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy	OMIM:252900
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc...	ORPHA:824
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,...	ORPHA:85293
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Dystonia, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc...	OMIM:618156
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse...	OMIM:613320
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hsd10 Disease, Infantile Type	Restlessness, Dystonia, Cardiomegaly, Choreoathetosis, Dysphagia, Hypertrophic cardiomyopathy, Pa...	ORPHA:391428
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Thyroiditis, Lymphadenopathy, ...	ORPHA:39041
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Sézary Syndrome	Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal lymphocyt...	ORPHA:3162
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ...	OMIM:602557
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel...	OMIM:212140
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial ...	ORPHA:77259
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, 2-3 toe syndactyly, Lymphope...	ORPHA:391307
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p...	OMIM:224120
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosi...	ORPHA:525731
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal fibula morphology, Tibial bowing,...	ORPHA:3035
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Sialuria	Hepatomegaly, Splenomegaly, 2-3 toe syndactyly, Hypoplastic nipples, Attention deficit hyperactiv...	OMIM:269921
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res...	ORPHA:85451
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Dec...	OMIM:201100
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly	ORPHA:99931
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Infantile Liver Failure Syndrome 3	Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, S...	OMIM:618641
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Erlenmeye...	OMIM:230800
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Flared iliac wing, Short long b...	ORPHA:79255
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale	OMIM:620327
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Tetralogy of Fallo...	OMIM:601005
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di...	ORPHA:398124
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Single transverse palmar crease, Intermittent thrombocytopenia, Se...	OMIM:612541
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	ORPHA:1655
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ...	OMIM:278000
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Talipes equinovarus	OMIM:619036
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph...	OMIM:235510
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Abnormal pelvic girdle bone morphology, Type II diabetes mellitus, Ty...	ORPHA:1133
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hyperactivity, Hypospadias, Single transverse palmar crease, Overlapping toe, Tape...	OMIM:619148
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Dys...	OMIM:608013
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o...	OMIM:245600
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Hyperactivity, Short proximal phalanx of the 2nd finger...	ORPHA:261323
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova...	ORPHA:2348
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Beck-Fahrner Syndrome	Hip dysplasia, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Splenomegaly, Genu valgum, Abnormal metaph...	ORPHA:583
Camurati-Engelmann Disease	Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ul...	ORPHA:1328
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Ven...	OMIM:309520
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Clubbing	OMIM:612387
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsiv...	OMIM:300967
Scrub Typhus	Myocarditis, Splenomegaly, Tremor, Lymphadenopathy	ORPHA:83317
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c...	ORPHA:2463
Niemann-Pick Disease, Type C1	Hepatomegaly, Dystonia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue ...	OMIM:257220
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia	ORPHA:79237
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Legionnaires Disease	Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenop...	ORPHA:549
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Short femoral neck, Hypoth...	OMIM:618440
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ...	ORPHA:57777
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Coxa valga, Splenomegaly, Metaphyseal widening,...	OMIM:252500
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ...	ORPHA:439
Tay-Sachs Disease	Exaggerated startle response, Dystonia, Precocious puberty, Tremor, Hepatosplenomegaly, Distal up...	ORPHA:845
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop...	OMIM:201475
Niemann-Pick Disease, Type C2	Hepatomegaly, Dystonia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia,...	OMIM:607625
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Ventric...	ORPHA:209905
Mucopolysaccharidosis Type 3	Hepatomegaly, Hyperactivity, Cardiomegaly, Adenoiditis, Splenomegaly, Avascular necrosis of the c...	ORPHA:581
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone...	OMIM:239200
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	ORPHA:42
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomy...	OMIM:608836
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor...	ORPHA:3472
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Splenomegaly, ...	OMIM:269860
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr...	ORPHA:53035
Fucosidosis	Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dystonia	OMIM:230000
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	OMIM:255120
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Refsum Disease, Classic	Cardiomyopathy, Short fourth metatarsal, Cardiomegaly	OMIM:266500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati...	ORPHA:264580
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules	OMIM:139090
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism	OMIM:617713
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Tremor, Cardiomyopathy, Impotence, Intention tremor	OMIM:105210
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Overlapping toe, Hip dislocation, Elbow flexion co...	OMIM:617301
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fert...	OMIM:269700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Mucopolysaccharidosis Type 7	Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippling, Abnormal hip bone morphology,...	ORPHA:584
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,...	OMIM:615512
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus	OMIM:184850
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Thro...	ORPHA:781
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrh...	OMIM:157640
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:96180
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:424
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Parotitis, Camptodactyly of finger, Microcytic...	OMIM:256040
Mend Syndrome	Hyperactivity, Broad hallux, Overlapping toe, Aggressive behavior, Cryptorchidism, Long fingers, ...	ORPHA:401973
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Lymphopenia, Thrombocytopenia	OMIM:617591
Distal Deletion 12Q	Single transverse palmar crease, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the...	ORPHA:96149
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility ...	OMIM:608594
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ...	ORPHA:268
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega...	OMIM:614921
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Agitation, Clinodactyly of the 5th finger	OMIM:618056
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia	OMIM:620306
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality o...	ORPHA:744
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Tremor, Thrombo...	OMIM:214500
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Congenital hip dislocation, Atrial septal defect, Clinodactyly of the 5th fi...	ORPHA:373
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty...	OMIM:270400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Clinodactyly of the 5th finger, Atrial septal defect, Abnormal r...	OMIM:619522
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Cardiomegaly	ORPHA:349
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro...	OMIM:153670
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Sandal gap, Macrodactyly	OMIM:612918
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Single transverse palmar c...	ORPHA:521426
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Abnormal sacroiliac joint morpho...	ORPHA:32960
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous genitalia, female, Ambiguous...	OMIM:249000
Legius Syndrome	Hyperactivity, Dystonia, Acute monocytic leukemia, Mitral valve prolapse, Ovarian neoplasm, Diaph...	ORPHA:137605
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc...	OMIM:130650
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Dela...	OMIM:611881
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ...	OMIM:617088
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte mor...	ORPHA:565612
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Atrial septal defect, Intestinal lymphangiectasia, Ascites, Hypot...	OMIM:616843
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Hereditary Orotic Aciduria	Splenomegaly, Hip dysplasia, Anemia	ORPHA:30
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosi...	ORPHA:1304
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Maternal Phenylketonuria	Hyperactivity, Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnorm...	ORPHA:2209
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci...	OMIM:610199
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Single transverse palmar crease, Postaxial poly...	OMIM:617527
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Choreoacanthocytosis	Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Hepatomegaly, Self-mutilation of tongue ...	ORPHA:2388
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Overlapping toe	OMIM:618598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Exaggerated startle response, Dystonia, Bicuspid aortic valve, Ventricular ...	ORPHA:438213
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy...	ORPHA:14
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Steatorrhea, Hypocholesterolemia	OMIM:212065
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Thrombocytope...	ORPHA:2072
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Aicardi-Goutières Syndrome	Diabetes mellitus, Dystonia, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Hepatosp...	ORPHA:51
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Bohring-Opitz Syndrome	Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist flexion contracture, Fixed elbow flex...	ORPHA:97297
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Hypothyroidism	ORPHA:3198
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g...	OMIM:253800
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Tremor, Splenomegaly...	ORPHA:667
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
X-Linked Intellectual Disability, Snyder Type	Long toe, Hypospadias, Arachnodactyly, Cryptorchidism, Slender toe, Abnormality of the Leydig cel...	ORPHA:3063
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morphology, Auto...	ORPHA:77293
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology...	ORPHA:228308
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Hypothyroidi...	ORPHA:116
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hyp...	OMIM:312870
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Anorexia, Thrombocytopenia, Cervical lymphadenopathy, ...	ORPHA:50918
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Polydipsia, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital...	ORPHA:731
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenome...	OMIM:181000
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Tremor, Compulsive behaviors, Atrial se...	ORPHA:904
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Histiocytoid Cardiomyopathy	Hepatomegaly, Polycystic ovaries, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Singleton-Merten Syndrome 1	Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic...	OMIM:182250
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Dubowitz Syndrome	Hypocholesterolemia	OMIM:223370
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Asparagine Synthetase Deficiency	Tremor, Large hands, Exaggerated startle response	OMIM:615574
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Dysphagia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:365
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Dysphagia	OMIM:618367
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Johanson-Blizzard Syndrome	Single transverse palmar crease, Hepatic fibrosis, Atrial septal defect, Clinodactyly of the 5th ...	OMIM:243800
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration	OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Hepatic calci...	ORPHA:51608
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia	ORPHA:534
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534

Histopathology

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

There is no histopathology data for Apobec1

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 Apobec1.

No publications found that use IMPC mice or data for Apobec1.

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MGI Allele	Allele Type	Produced
Apobec1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Apobec1^{tm42782(L1L2_Bact_P)}	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: Apobec1 MGI:103298

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Apobec1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data