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Gene: Vrk3 MGI:2182465

Gene Summary

Name:

vaccinia related kinase 3

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
abnormal spleen morphology	Vrk3^em1(IMPC)Mbp	HOM	Late adult
abnormal kidney morphology	Vrk3^em1(IMPC)Mbp	HOM	Late adult
enlarged spleen	Vrk3^em1(IMPC)Mbp	HOM	Late adult
abnormal skin morphology	Vrk3^em1(IMPC)Mbp	HOM	Late adult
abnormal eye morphology	Vrk3^em1(IMPC)Mbp	HOM	Late adult
abnormal liver morphology	Vrk3^em1(IMPC)Mbp	HOM	Late adult
enlarged kidney	Vrk3^em1(IMPC)Mbp	HOM	Late adult
scaly skin	Vrk3^em1(IMPC)Mbp	HOM	Late adult
abnormal pancreas morphology	Vrk3^em1(IMPC)Mbp	HOM	Late adult

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Histopathology

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Human diseases caused by Vrk3 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 Vrk3 (0 diseases)
Human diseases predicted to be associated with Vrk3 (612 diseases)

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

The table below shows human diseases predicted to be associated to Vrk3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity	OMIM:618830
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Intellectual Developmental Disorder, Autosomal Recessive 66	Attention deficit hyperactivity disorder, Gait ataxia, Aggressive behavior, Excessive shyness	OMIM:618221
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 64	Reduced social reciprocity, Aggressive behavior	OMIM:618103
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608631
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so...	OMIM:608636
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Reduced social reciprocity, Motor stereotypy	OMIM:606053
Autism, Susceptibility To, 8	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:607373
Autism	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:209850
Immunodeficiency, Common Variable, 6	Purpura, Hepatomegaly, Enlarged kidney, Nephrotic range proteinuria, Abnormal T cell count, Mesan...	OMIM:613496
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Inappropriate behavior, Frontotemporal dementia, Memory impairment, Falls, Shuffling gait, Short ...	ORPHA:412066
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor	ORPHA:46532
Childhood Disintegrative Disorder	Abnormal emotion, Mental deterioration, Progressive language deterioration, Reduced social recipr...	ORPHA:168782
Frontotemporal Dementia	Irritability, Frontotemporal dementia, Polyphagia, Frontal lobe dementia, Inappropriate laughter,...	OMIM:600274
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior	ORPHA:208441
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Inability to walk, Reduced social reciprocity, Motor stereotypy	OMIM:617820
Peeling Skin Syndrome 5	Scaling skin, Epidermal acanthosis	OMIM:617115
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Scaling skin, Palmoplantar scaling skin, Dry skin, Erythema	ORPHA:530838
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing	ORPHA:397933
Peeling Skin Syndrome 3	White scaling skin, Erythema	OMIM:616265
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav...	ORPHA:101039
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin	OMIM:105250
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Acute Generalized Exanthematous Pustulosis	Scaling skin, Purpura, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, ...	ORPHA:293173
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Reduced social reciprocity, Aggressive behavior	ORPHA:329249
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Diffuse Cutaneous Mastocytosis	Scaling skin, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormal...	ORPHA:79456
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hsd10 Disease	Abnormal social behavior, Short attention span, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis	ORPHA:391417
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin	OMIM:146590
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Compulsive behaviors, Short attention span, Abnormal so...	ORPHA:444002
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Ichthyosis, Congenital, Autosomal Recessive 14	Scaling skin, Erythema	OMIM:617571
Acral Peeling Skin Syndrome	Scaling skin, Excessive wrinkling of palmar skin, Erythema	ORPHA:263534
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis	OMIM:612908
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Aicardi-Goutieres Syndrome 5	Scaling skin, Thrombocytopenia, Dry skin	OMIM:612952
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Scaling skin, Acute kidney injury, Exercise-induced myoglobinuria, Psoriasiform lesion, Elevated ...	ORPHA:284426
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Scaling skin, Cutis laxa, Epidermal acanthosis, Dry skin	ORPHA:2269
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scaling skin, Elevated circulating hepatic transaminase concentrati...	ORPHA:101330
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Epidermolytic Hyperkeratosis 1	Scaling skin, Epidermal acanthosis	OMIM:113800
Early-Onset Autosomal Dominant Alzheimer Disease	Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti...	ORPHA:1020
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Attention deficit hyperactivity disorder, Ataxia, Reduced social reciprocity	ORPHA:137831
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Idiopathic Localized Lipodystrophy	Scaling skin, Erythema	ORPHA:90158
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis	OMIM:615598
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Lack of skin elasticity, Erythema	ORPHA:281127
Verrucous Hemangioma	Epidermal acanthosis	ORPHA:464318
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Intellectual Developmental Disorder, Autosomal Recessive 6	Reduced social reciprocity	OMIM:611092
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Foxg1 Syndrome	Difficulty walking, Inability to walk, Stereotypical hand wringing, Cognitive impairment, Reduced...	ORPHA:561854
Centrifugal Lipodystrophy	Scaling skin, Lymphadenitis, Erythema	ORPHA:90156
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis	OMIM:615028
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Psoriasiform lesion, Decreased pro...	ORPHA:169154
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Irritability, Abnormal temper tantrums, Depression, Hyperactivity, Recurrent hand flapping, Short...	ORPHA:449291
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Autism, Susceptibility To, 3	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608049
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Scaling skin, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia,...	OMIM:606367
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Psoriasis 2	Scaling skin, Epidermal acanthosis	OMIM:602723
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatocellular ...	OMIM:619463
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Progressive language deterioration, Ataxia, Reduced social reciprocity, Motor ster...	OMIM:610042
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Limb ataxia, Depression, Dysdiadochokinesis, Compulsive behaviors, Gait apraxia, Cognitive impair...	OMIM:615157
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Ataxia, Reduced social reciprocity, Dysphagia, Aggressive behavior	OMIM:619738
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblastoma, Cryptorchidism	ORPHA:2849
Childhood Absence Epilepsy	Depression, Attention deficit hyperactivity disorder, Punding, Abnormal social behavior	ORPHA:64280
Familial Reactive Perforating Collagenosis	Abnormal epidermal morphology	ORPHA:79147
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy	ORPHA:530983
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Pallor, Anemia, Splenomegaly	ORPHA:75563
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Elevated c...	OMIM:608836
Young-Onset Parkinson Disease	Agitation, Gait imbalance, Depression, Short attention span, Impulsivity, Cognitive impairment, F...	ORPHA:2828
Ichthyosis With Erythrokeratoderma	Scaling skin, Epidermal acanthosis, Erythema	OMIM:620507
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Atypical Rett Syndrome	Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Stereotypical hand wringing...	ORPHA:3095
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Hypotrichosis Simplex Of The Scalp	Scaling skin, Epidermal acanthosis	ORPHA:90368
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Syngap1-Related Developmental And Epileptic Encephalopathy	Obsessive-compulsive trait, Recurrent hand flapping, Gait disturbance, Ataxia, Reduced social rec...	ORPHA:544254
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Graft Versus Host Disease	Scaling skin, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,...	ORPHA:39812
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom...	OMIM:613313
Classic Mycosis Fungoides	Hepatomegaly, Skin ulcer, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Splenomegaly...	ORPHA:2584
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Scaling skin, Dry skin, Erythema	OMIM:614457
Peeling Skin Syndrome 4	Scaling skin, Epidermal acanthosis	OMIM:607936
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Peeling Skin Syndrome 1	Scaling skin, Eosinophilia	OMIM:270300
Proteus Syndrome	Epidermal acanthosis, Lymphangioma, Splenomegaly	OMIM:176920
Congenital Disorder Of Glycosylation, Type If	Scaling skin, Renal cortical cysts, Dry skin	OMIM:609180
Cutaneous Mastocytoma	Scaling skin, Erythema	ORPHA:79455
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Ichthyosis, Annular Epidermolytic, 2	Scaling skin, Erythema	OMIM:620148
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Epidermal acanthosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresi...	OMIM:607626
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Intellectual Developmental Disorder, Autosomal Dominant 56	Inability to walk, Broad-based gait, Short attention span, Impulsivity, Ataxia, Reduced social re...	OMIM:617854
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Peeling Skin Syndrome 6	Scaling skin, Dry skin	OMIM:618084
Cryoglobulinemic Vasculitis	Purpura, Hepatomegaly, Mediastinal lymphadenopathy, Skin ulcer, Hematuria, Glomerulopathy, Petech...	ORPHA:91138
Mpdu1-Cdg	Scaling skin, Renal cortical cysts, Decreased response to growth hormone stimulation test	ORPHA:79323
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder...	ORPHA:449395
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R...	ORPHA:100924
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Myoclonic-Astatic Epilepsy	Abnormal emotion, Hyperactivity, Ataxia, Reduced social reciprocity, Unsteady gait, Attention def...	ORPHA:1942
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Beta-Thalassemia	Hepatomegaly, Anemia, Skin ulcer, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemogl...	ORPHA:848
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Reduced social reciprocity, Aggressive behavior	OMIM:616083
Bazex Syndrome	Scaling skin, Anemia	ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 6	Scaling skin, Epidermal acanthosis, Dry skin	OMIM:612281
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Psoriasiform lesion, Lymphadenopathy, Pancytopenia, Decreased propor...	OMIM:614700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra...	OMIM:254450
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Ichthyosis, Congenital, Autosomal Recessive 5	Epidermal acanthosis, Acanthocytosis, White scaling skin	OMIM:604777
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Ichthyosis With Confetti	Scaling skin, Hypoplastic nipples	OMIM:609165
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Bathing Suit Ichthyosis	Scaling skin, Epidermal acanthosis	ORPHA:100976
Primary Myelofibrosis	Purpura, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Leukocyt...	ORPHA:824
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Scaling skin, Epidermal acanthosis, Acantholysis, Dry skin	OMIM:616295
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema	OMIM:617526
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Congenital Syphilis	Palmoplantar scaling skin, Purpura, Pancreatitis, Anemia, Lymphadenopathy, Petechiae, Nephrotic s...	ORPHA:499009
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, De...	ORPHA:231222
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
X-Linked Intellectual Disability, Van Esch Type	Attention deficit hyperactivity disorder, Reduced social reciprocity	ORPHA:163976
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly	OMIM:620296
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Skin ulcer, Pancytopenia, Abnormal macrophage morphology, ...	ORPHA:507
Acute Radiation Syndrome	Scaling skin, Skin ulcer, Thrombocytopenia, Lymphopenia, Granulocytopenia	ORPHA:454831
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin	OMIM:146700
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia	OMIM:611804
Ichthyosis, Annular Epidermolytic, 1	Scaling skin, Erythema	OMIM:607602
Bacterial Toxic-Shock Syndrome	Scaling skin, Renal insufficiency, Recurrent urinary tract infections, Increased circulating myel...	ORPHA:36234
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis, Hepatosplenomegaly...	OMIM:612840
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Metachromatic Leukodystrophy, Adult Form	Difficulty walking, Progressive psychomotor deterioration, Abnormal social behavior, Memory impai...	ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form	Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability, Short attent...	ORPHA:309263
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Reduced social reciprocity	OMIM:617051
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, Thrombocytopenia, S...	ORPHA:158029
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Pallor	ORPHA:163596
Pemphigus Foliaceus	Scaling skin, Skin vesicle, Acantholysis, Erythema	ORPHA:79481
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Decreased testicular size, Hepatospl...	ORPHA:168569
Atrophoderma Vermiculata	Abnormal epidermal morphology, Erythema	ORPHA:79100
Myoectodermal Gonadal Dysgenesis Syndrome	Scaling skin, Unilateral renal agenesis, Accessory spleen, Dry skin, Elevated circulating follicl...	OMIM:618419
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Beck-Fahrner Syndrome	Depression, Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618798
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Scaling skin, Dry skin, Multinodular goiter	OMIM:618373
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Wagro Syndrome	Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Reduc...	OMIM:612469
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia	ORPHA:309256
Recon Progeroid Syndrome	Scaling skin, Thrombocytopenia, Anemia, Dry skin	OMIM:620370
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,...	ORPHA:79477
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin	OMIM:604536
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating hepatic transaminase concentration, Hypospadias, ...	OMIM:137920
Free Sialic Acid Storage Disease	Hepatomegaly, Skin ulcer, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly	ORPHA:834
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Hydronephrosis	ORPHA:35173
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor, Abnormal urinary color, Splenomegaly	ORPHA:90037
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Petechiae, Ne...	OMIM:603909
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Elastosis Perforans Serpiginosa	Cutis laxa, Epidermal acanthosis	ORPHA:79148
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Thrombocytopenia, Leuko...	ORPHA:505248
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Rat-Bite Fever	Scaling skin, Abdominal aseptic abscess, Pancreatitis, Anemia, Parotitis, Lymphadenitis	ORPHA:31205
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ovarian gonadoblastoma, ...	OMIM:194080
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h...	OMIM:267010
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Epidermal acanthosis, Hepatomegaly, Dry skin, Splenomegaly, Hypereos...	OMIM:617388
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Chromosome 15Q11.2 Deletion Syndrome	Memory impairment, Compulsive behaviors, Diminished ability to concentrate, Ataxia, Reduced socia...	OMIM:615656
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Mal De Meleda	Epidermal acanthosis, Erythema	ORPHA:87503
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Epidermal acanthosis	ORPHA:79395
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
48,Xxxy Syndrome	Attention deficit hyperactivity disorder, Irritability, Abnormal aggressive, impulsive or violent...	ORPHA:96263
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology, Nephrotic syndrome, Urinary reten...	ORPHA:90307
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
47,Xyy Syndrome	Attention deficit hyperactivity disorder, Hyperactivity, Reduced social reciprocity, Impulsivity	ORPHA:8
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechia...	ORPHA:294
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Emotional lability, Low frustration tolerance, Hyperactivity, Compulsive behaviors, Reduced socia...	OMIM:309520
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Apla...	ORPHA:93111
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Riddle Syndrome	Scaling skin, Enuresis nocturna, Generalized lymphadenopathy, Erythema	ORPHA:420741
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples,...	ORPHA:79328
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Dry skin, Ne...	ORPHA:39041
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor, Abnormal...	ORPHA:90033
Prolidase Deficiency	Hepatomegaly, Anemia, Skin ulcer, Petechiae, Hyperimidodipeptiduria, Prolonged neonatal jaundice,...	OMIM:170100
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Immunodeficiency 58	Scaling skin, Dysuria, Psoriasiform lesion	OMIM:618131
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Erythema	OMIM:619183
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega...	OMIM:306955
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Rett Syndrome, Congenital Variant	Irritability, Tongue thrusting, Athetosis, Reduced social reciprocity, Motor stereotypy, Bruxism	OMIM:613454
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladde...	OMIM:615710
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Splenomegaly	ORPHA:3162
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Purpura, Jaundice, Hepatomegaly, Hemophagocy...	ORPHA:540
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Gait disturbance, Reduced social reciprocity, Motor stereotypy, Attention defic...	OMIM:300352
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Ogden Syndrome	Redundant neck skin, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Enlarged...	OMIM:300855
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Cryptorchidism	OMIM:612651
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Cholangi...	ORPHA:449432
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Meacham Syndrome	Enlarged kidney, Horseshoe kidney, Accessory spleen	OMIM:608978
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar scaling skin, Acantholysis, Palmoplantar erythema	OMIM:605676
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Skin ulcer, Hypoparathyroidism, Decreased mea...	ORPHA:231226
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Lead Poisoning	Anorexia, Memory impairment, Depression, Cognitive impairment, Reduced social reciprocity, Attent...	ORPHA:330015
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Abnormal mast cell morphology	ORPHA:398189
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep...	OMIM:208500
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Reduced social reciprocity	ORPHA:254531
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Stereotypical body rocking, ...	OMIM:300912
Annular Pancreas	Annular pancreas	ORPHA:675
Pancreas, Annular	Annular pancreas	OMIM:167750
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
White Sponge Nevus 2	Epidermal acanthosis	OMIM:615785
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Pelvic kidn...	OMIM:227646
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Choreoacanthocytosis	Self-injurious behavior, Irritability, Socially inappropriate behavior, Hair-pulling, Falls, Emot...	ORPHA:2388
Psoriasis 14, Pustular	Epidermal acanthosis, Cholangitis, Leukocytosis, Neutrophilia, Erythema	OMIM:614204
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis	ORPHA:2199
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior, Memory impairment, Nonprogressive cerebellar ataxia, Ataxia, Unsteady g...	ORPHA:314647
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Leukocytosis, Scaling skin on fingertip, Palmoplantar erythem...	ORPHA:2331
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Scaling skin, Decreased response to growth hormone stimulation test, Facial erythema, Erythema, U...	OMIM:619503
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Unilateral cryptorchidism, Patent ura...	OMIM:618280
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Pontocerebellar Hypoplasia, Type 8	Reduced social reciprocity, Dysphagia, Gait ataxia	OMIM:614961
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification	OMIM:167800
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Skin ulcer...	ORPHA:231214
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple...	OMIM:606003
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Tangier Disease	Dry skin, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Epidermal acanthosis, Neutrophilia, Splenomegaly, Hepatomegaly	OMIM:612852
Proximal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Choreoathetosis, Reduced social reciprocity, Motor ster...	ORPHA:261197
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Intellectual Developmental Disorder, Autosomal Dominant 1	Recurrent hand flapping, Short attention span, Polyphagia, Inappropriate laughter, Ataxia, Reduce...	OMIM:156200
Basan Syndrome	Epidermal acanthosis	OMIM:129200
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascite...	ORPHA:1655
Niemann-Pick Disease Type C	Abnormal social behavior, Depression, Low frustration tolerance, Compulsive behaviors, Gait distu...	ORPHA:646
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Inability to walk, Delayed early-childhood social milestone development, Emotional lability, Shor...	ORPHA:300570
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly, Erythema	ORPHA:53715
Macrocephaly/Autism Syndrome	Hepatomegaly, Cutis laxa, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
American Trypanosomiasis	Lymphadenopathy, Pallor, Hepatomegaly, Splenomegaly	ORPHA:3386
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Erythema	ORPHA:33577
Neurodegeneration With Brain Iron Accumulation 2A	Unsteady gait, Ataxia, Reduced social reciprocity	OMIM:256600
Fg Syndrome Type 1	Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior, Broad-b...	ORPHA:93932
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenome...	OMIM:235255
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Singleton-Merten Syndrome 2	Psoriasiform lesion	OMIM:616298
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion	ORPHA:163525
Neonatal Inflammatory Skin And Bowel Disease	Scaling skin, Erythema, Left ventricular hypertrophy	ORPHA:294023
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Elevated circulating hepatic transaminase concentration, Renal insuffic...	ORPHA:261265
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perioral erythema, Dry skin, Perianal erythema, Decreased testicular size, Splenome...	OMIM:201100
Hereditary Elliptocytosis	Jaundice, Skin ulcer, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundic...	ORPHA:288
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Hydronephrosis, Asplenia	ORPHA:210122
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Alveolar Echinococcosis	Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal bladder morpholo...	ORPHA:284
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Skin ulcer, Splenomegaly, Abnormality o...	ORPHA:379
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Kid Syndrome	Scaling skin, Epidermal acanthosis	ORPHA:477
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ...	ORPHA:500095
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Infantile Digital Fibromatosis	Epidermal acanthosis	ORPHA:199267
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Skin ulcer, Dry skin, Leukemia	ORPHA:2526
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal aggressive, impulsive or violent behavior, Inability to walk, Abnormal soc...	ORPHA:1675
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Multiple renal cysts, Multicystic kidney dysplasia, Abnormality o...	ORPHA:1318
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Scaling skin, Facial erythema, Dry skin	ORPHA:1010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Feingold Syndrome	Annular pancreas, Abnormality of the spleen	ORPHA:1305
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i...	OMIM:615873
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis	OMIM:616069
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick...	ORPHA:177907
Vulvovaginal Gingival Syndrome	Epidermal acanthosis, Erythema	ORPHA:83453
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv...	ORPHA:353281
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Nephroblastoma, Hydroneph...	OMIM:312870
1P21.3 Microdeletion Syndrome	Excessive shyness, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive...	ORPHA:293948
Tuberous Sclerosis Complex	Abnormal social behavior, Depression, Hyperactivity, Impulsivity, Repetitive compulsive behavior,...	ORPHA:805
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asplenia, Cryptorchidism, C...	ORPHA:564
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis	OMIM:615022
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Acrokeratosis Verruciformis	Epidermal acanthosis, Acantholysis	OMIM:101900
Punctate Palmoplantar Keratoderma Type 1	Abnormal epidermal morphology, Epidermal acanthosis, Renal cell carcinoma, Pancreatic adenocarcinoma	ORPHA:79501
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy	ORPHA:447997
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Thro...	OMIM:617941
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Ecchymosis, Stomatocyt...	OMIM:153670
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Granulomatosis	ORPHA:38
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Aceruloplasminemia	Elevated hepatic iron concentration, Refractory anemia, Hypochromic microcytic anemia, Abnormal p...	ORPHA:48818
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis	OMIM:133200
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Phelan-Mcdermid Syndrome	Tongue thrusting, Broad-based gait, Unsteady gait, Reduced social reciprocity, Motor stereotypy, ...	OMIM:606232
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu...	ORPHA:64744
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Congenital Disorder Of Deglycosylation 2	Reduced social reciprocity, Dysphagia	OMIM:619775
Woodhouse-Sakati Syndrome	Scaling skin, Decreased response to growth hormone stimulation test, Decreased testicular size, S...	ORPHA:3464
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:615935
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts	ORPHA:1190
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Erythema	OMIM:613943
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Restrictive Dermopathy	Scaling skin, Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands,...	ORPHA:1662
Alg11-Cdg	Ataxia, Reduced social reciprocity	ORPHA:280071
Bohring-Opitz Syndrome	Cutis laxa, Hyperechogenic pancreas, Supernumerary nipple, Vesicoureteral reflux	OMIM:605039
Common Variable Immunodeficiency	Purpura, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, ...	ORPHA:1572
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Dry skin, Increas...	ORPHA:84064
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Scaling skin, Hypospadias, Unilateral renal agenesis, Dry skin, Perianal erythema, Renal agenesis...	OMIM:308205
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior	OMIM:616393
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:260370
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Q Fever	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic transamin...	ORPHA:781
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Urethral stricture	ORPHA:158668
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Erythema	OMIM:617525
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis	OMIM:148600
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Polycythemi...	OMIM:193300
Mend Syndrome	Hyperactivity, Abnormal social behavior, Aggressive behavior	ORPHA:401973
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s...	OMIM:616263
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Acute...	ORPHA:342
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Epidermal acanthosis	OMIM:615735
Restrictive Dermopathy 1	Scaling skin, Ureteral duplication, Hypospadias	OMIM:275210
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Cutis laxa, Leukopenia, Spl...	OMIM:222700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Epidermal acanthosis, Dry skin	OMIM:618527
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis	ORPHA:79151
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperactivity, Impulsivity, Cognitive impairment, Ataxia, Bruxism, Aggressive behavior, Tip-toe g...	OMIM:619475
Chronic Actinic Dermatitis	Epidermal acanthosis	ORPHA:330064
Olmsted Syndrome, X-Linked	Epidermal acanthosis	OMIM:300918
Autoinflammatory Disease, Systemic, With Vasculitis	Purpura, Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count,...	OMIM:620376
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Adnp Syndrome	Abnormal temper tantrums, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia, Reduced so...	ORPHA:404448
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis	OMIM:148700
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification	OMIM:608189
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv...	ORPHA:353277
7Q11.23 Microduplication Syndrome	Hyperactivity, Polyphagia, Collectionism, Reduced social reciprocity, Motor stereotypy, Unsteady ...	ORPHA:96121
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis	OMIM:610227
Distal Deletion 12Q	Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Vesicoureteral re...	ORPHA:96149
Ichthyosis Prematurity Syndrome	Epidermal acanthosis	OMIM:608649
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Hepatomegaly, Anemia, Cholangitis, Ureteral duplication, Nephronophthisis, R...	OMIM:266920
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis	OMIM:613102
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Orchitis...	OMIM:249100
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis	OMIM:263520
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis, Ectopic pancreatic...	OMIM:229850
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, M...	OMIM:620330
Trisomy 8P	Annular pancreas, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Cryptorchidism, Micropenis...	ORPHA:264450
Ichthyosis, Congenital, Autosomal Recessive 1	Epidermal acanthosis	OMIM:242300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Depression, Emotional lability, Compulsive behaviors, Polyphagia, Reduced social reci...	ORPHA:293987
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis	OMIM:616029
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epidermal acanthosis, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Bil...	ORPHA:83617
Ectodermal Dysplasia And Immunodeficiency 2	Dry skin, Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Huriez Syndrome	Epidermal acanthosis	OMIM:181600
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Pancrea...	ORPHA:892
Pseudoxanthoma Elasticum	Cutis laxa, Civatte bodies, Renovascular hypertension	OMIM:264800
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla...	OMIM:619991
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma	ORPHA:97297
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis	OMIM:615023
1P36 Deletion Syndrome	Abnormality of the kidney, Annular pancreas, Hypospadias, Hypoplasia of penis, Renal cyst, Hydron...	ORPHA:1606
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Erythema	OMIM:242100
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:608594
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism	OMIM:616975
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Thrombocytopenia, Hypospadias	OMIM:147791
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Asplenia, Hydronephrosis, ...	OMIM:265380
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Hydronephrosis, Thrombocytopenia, Cryptorchidism, ...	ORPHA:2308
Cole Disease	Epidermal acanthosis	OMIM:615522
Palmoplantar Carcinoma, Multiple Self-Healing	Epidermal acanthosis	OMIM:615225
Koolen-De Vries Syndrome Due To A Point Mutation	Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf...	ORPHA:363958
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Blau Syndrome	Skin ulcer, Anemia, Lymphadenopathy, Abnormal salivary gland morphology, Dry skin, Clear cell ren...	ORPHA:90340
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Duplicated collecting system	ORPHA:488642
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion	ORPHA:85436
Naxos Disease	Cardiomegaly, Epidermal acanthosis, Acantholysis	OMIM:601214
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Nephroblas...	ORPHA:798
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas	OMIM:618162
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epidermal acanthosis, Unilateral renal agenesis, Thyroid hypoplasia, Hydronephrosis, Erythema	OMIM:308050
Olmsted Syndrome 2	Epidermal acanthosis	OMIM:619208
Odontoonychodermal Dysplasia	Dry skin, Epidermal acanthosis, Palmoplantar erythema, Erythema	OMIM:257980
Trichothiodystrophy	Reduced social reciprocity, Gait ataxia	ORPHA:33364
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism	OMIM:268400
Monosomy 22Q13.3	Hyperactivity, Bruxism, Hair-pulling	ORPHA:48652
Cornelia De Lange Syndrome 6	Compulsive behaviors, Hair-pulling	OMIM:620568
Williams Syndrome	Gait imbalance, Abnormal social behavior, Depression, Compulsive behaviors, Gait disturbance, Ata...	ORPHA:904
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Reduced social reciprocity, Gait ataxia	ORPHA:457359
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancre...	ORPHA:2255
Chromosome 1P36 Deletion Syndrome, Distal	Polyphagia, Oppositional defiant disorder, Reduced social reciprocity, Dysphagia, Self-mutilation...	OMIM:607872
17Q11 Microdeletion Syndrome	Short attention span, Reduced social reciprocity, Memory impairment	ORPHA:97685
Mowat-Wilson Syndrome	Inability to walk, Broad-based gait, Ataxia, Reduced social reciprocity, Motor stereotypy, Dyspha...	ORPHA:2152

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
Brown adipose tissue - MPATH pathological process term granulomatous inflammation	Vrk3^em1(IMPC)Mbp	HOM		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 Vrk3.

No publications found that use IMPC mice or data for Vrk3.

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MGI Allele	Allele Type	Produced
Vrk3^{tm199199(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vrk3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Vrk3^{tm271070(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vrk3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Vrk3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Vrk3 MGI:2182465

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Histopathology

Human diseases caused by Vrk3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data