Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Kcnn4 MGI:1277957

Gene Summary

Name:

potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4

Synonyms:

SK4, IKCa1, IK1, KCa3.1, mIKCa1

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 colon morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased exploration in new environment	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	8.29×10^-05
abnormal testis morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased spleen weight	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	4.05×10^-06
enlarged thymus	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small heart	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small seminal vesicle	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small thymus	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased fasting circulating glucose level	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	4.52×10^-08
small liver	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal liver morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged testis	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased erythrocyte cell number	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	3.24×10^-05
abnormal rectum morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged cecum	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased freezing behavior	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	5.71×10^-05
increased red blood cell distribution width	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	1.14×10^-11
abnormal skin morphology	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
hydrometra	Kcnn4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

View images

Human diseases caused by Kcnn4 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 Kcnn4 (3 diseases)
Human diseases predicted to be associated with Kcnn4 (883 diseases)

The table below shows human diseases associated to Kcnn4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Cystic Fibrosis	Elevated hepatic transaminase, Absent vas deferens, Sinusitis, Meconium ileus, Malabsorption, Rec...	ORPHA:586

The table below shows human diseases predicted to be associated to Kcnn4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Candidiasis, Familial, 1	Premature loss of teeth, Cutaneous anergy	OMIM:114580
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Xerostomia, Enlarged lacrimal ...	ORPHA:449432
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, A...	ORPHA:284227
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Kimura Disease	Abnormal salivary gland morphology, Increased circulating IgE level	ORPHA:482
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Congestive heart failure, Increased circulating ferritin concentratio...	OMIM:613313
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Dementia	ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpus...	ORPHA:90041
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Mitral valve prolapse, Self-injurious behavior, Gastroesophagea...	ORPHA:908
Lujan-Fryns Syndrome	Atrial septal defect, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of th...	ORPHA:776
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism, High palate	OMIM:300428
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Fragile X Syndrome	Macroorchidism, postpubertal, Mandibular prognathia, Hyperactivity, Self-biting, Mitral valve pro...	OMIM:300624
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Abnormalit...	ORPHA:2169
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit...	ORPHA:3000
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, M...	OMIM:300143
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename...	ORPHA:139474
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit...	ORPHA:848
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Decreased circulating t...	OMIM:619774
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Hyperactivity, Thin upper lip vermilion, Ventricular septal defect, Dental ...	OMIM:309520
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism...	ORPHA:1193
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged lacrimal ...	ORPHA:79078
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Protruding tongue, Cardiomegaly, Abnormal atrioventricular valve morpholog...	ORPHA:324410
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple...	ORPHA:251992
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,...	ORPHA:562
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Polycystic ovaries, High palate, Attention deficit hyperactivity disorder,...	ORPHA:284180
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Megalencephaly	Macroorchidism, Atrial septal defect, Long penis	ORPHA:2477
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Micrognathia, Emotional lability, High palate, Bruxism, Macroorchidism, Male hypogo...	OMIM:300055
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Increased circulati...	OMIM:602390
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Reticular Dysgenesis	Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function	OMIM:267500
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Thick lower lip vermilion	OMIM:300238
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Ventricular septal defect, Cryptorchidi...	OMIM:301056
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension	OMIM:121300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul...	ORPHA:261250
Transaldolase Deficiency	Telangiectasia, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Abnormal circulating gluta...	ORPHA:101028
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circulating IgM ...	ORPHA:37748
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Hematochezia, Anemia, Compulsive behaviors, Stercoral ulcer	ORPHA:209964
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu...	OMIM:612562
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Cognitive impairment	ORPHA:172
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Micrognathia, Splenomegaly, Cardiomyopathy, Thin vermilion border, Hypogonadism	OMIM:608540
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin co...	OMIM:618886
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Micrognathia, Wide mouth, Retrognathia	OMIM:604273
Partington Syndrome	Macroorchidism	ORPHA:94083
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Atrial septal defect, ...	OMIM:235510
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, Hig...	OMIM:618874
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome...	ORPHA:79301
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ...	ORPHA:543
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,...	OMIM:112200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block...	ORPHA:398124
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Th...	ORPHA:79312
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Rectal atresia, Abnormal heart morphology, Anal atresia	OMIM:613390
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat...	ORPHA:180229
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia	OMIM:615010
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy...	ORPHA:811
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Everted lower lip vermilion	ORPHA:85286
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Trisomy 20P	Hypospadias, Micrognathia, Abnormality of the dentition, Cryptorchidism, Downturned corners of mo...	ORPHA:261318
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Babesiosis	Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f...	ORPHA:108
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti...	ORPHA:85450
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ...	OMIM:263200
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio...	ORPHA:160
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth...	ORPHA:1046
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Depression, Macroglossia, Attention deficit hyperactivity disorder, Pro...	ORPHA:90674
Lynch Syndrome	Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Gastrointestinal hemor...	ORPHA:144
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the...	ORPHA:440437
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper...	OMIM:619046
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding	ORPHA:252183
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Hypoglycemia, Male pseudohermaphroditism, Jaundice, M...	ORPHA:90790
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility...	ORPHA:1359
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ...	ORPHA:2414
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly	OMIM:620296
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, Self-injurious behavior, High palate, Retrogna...	OMIM:615637
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato...	ORPHA:157794
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Abnormal oral cavity morphology	ORPHA:42642
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Gaucher Disease Type 2	Splenomegaly, Cardiac arrest, Hepatomegaly	ORPHA:77260
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Dubowitz Syndrome	Hypoparathyroidism, Delayed eruption of teeth, Anal stenosis, Hypospadias, Abnormality of neutrop...	ORPHA:235
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Peritonitis...	ORPHA:90038
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne...	OMIM:214900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Splenomegaly, Hypogeusia, Furrowed t...	ORPHA:2930
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Malabsorption, Abnormality of the dentition, Splenomegaly, C...	ORPHA:93
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia	ORPHA:858
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Abnormal p...	ORPHA:208441
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Cystic Fibrosis	Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Biliary ci...	OMIM:219700
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis	OMIM:613490
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen...	OMIM:231000
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i...	ORPHA:397596
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Micrognathia, Pyloric stenosis, Rectal prolapse, Retrognathia, Hypoplasia of th...	OMIM:613177
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Cryptorchidism, ...	ORPHA:1655
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Steatorrhea...	OMIM:612714
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia	OMIM:618107
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ...	OMIM:619375
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,...	ORPHA:615
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnorm...	ORPHA:10
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysmenorrhea, Abnormal erythrocyte enz...	ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure	ORPHA:75234
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Mal...	ORPHA:2315
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Widely sp...	OMIM:619950
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Gingival bleeding, Left ventricular hypertro...	ORPHA:335
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Micr...	OMIM:235255
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm...	ORPHA:507
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Alpha-Mannosidosis	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Dental m...	ORPHA:61
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Micrognathia, R...	OMIM:115470
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Irritability, Cirrhosis, Hepatic failu...	OMIM:613489
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia	OMIM:620210
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Oral ulcer	ORPHA:50918
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, Micrognathia, Epispadi...	ORPHA:2556
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi...	ORPHA:2538
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe...	ORPHA:75233
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Galactosemia Iii	Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly	OMIM:230350
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Cystic Fibrosis	Elevated hepatic transaminase, Absent vas deferens, Sinusitis, Meconium ileus, Malabsorption, Rec...	ORPHA:586
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Gastrointestinal ...	ORPHA:436252
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resistance, Secondary amenor...	ORPHA:2348
49,Xxxyy Syndrome	Mandibular prognathia, External genital hypoplasia, Abnormality of the testis size, Micrognathia,...	ORPHA:261534
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal myocardiu...	ORPHA:77259
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary amenorrhea, Hepatosple...	OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Pyloric stenosis	ORPHA:664
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th...	ORPHA:290
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome...	ORPHA:1775
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Sarcoidosis	Enlargement of parotid gland, Enlarged lacrimal glands, Parotitis	ORPHA:797
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy...	ORPHA:649929
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Cardiac-Urogenital Syndrome	Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Macrocephaly/Autism Syndrome	Hepatomegaly, Short attention span, Penile freckling, Splenomegaly, Hydrocele testis, High palate...	OMIM:605309
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Hypoplasia of the thymus, Reduc...	OMIM:617241
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Zimmermann-Laband Syndrome	Hepatomegaly, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary tooth, Gingi...	ORPHA:3473
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Amed Syndrome, Digenic	Acute myeloid leukemia, Hypoplasia of the uterus, Leukopenia, Anemia, Bone marrow hypocellularity...	OMIM:619151
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegal...	OMIM:614576
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Attention deficit hyperactivity disorder, Lymphoid nodula...	ORPHA:210548
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl...	OMIM:139090
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Isolated Anencephaly	Cleft lip, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Lon...	OMIM:262190
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Malabsorption, Splenomegaly, I...	ORPHA:3452
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,...	OMIM:613027
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Hy...	OMIM:613179
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hiatus hernia	ORPHA:101009
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, E...	OMIM:612541
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Acute myeloid leukemia, Testicular neoplasm, Ovarian neoplasm, Acute ly...	ORPHA:524
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidis...	ORPHA:251066
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Increased stool urobilinogen conc...	ORPHA:79277
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Restrictive Dermopathy 2	Microretrognathia, Rectal prolapse, Gastroesophageal reflux, Hypoplastic facial bones	OMIM:619793
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension, Hypokalemia, Anemia	OMIM:611489
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Congestive heart failure, Myocarditis, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N...	ORPHA:47612
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Diffuse telangiectasia, Anemia, Increased circulating antibody level,...	OMIM:170100
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Portal hypertens...	OMIM:208540
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphad...	ORPHA:549
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology...	ORPHA:1133
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly...	OMIM:618935
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:261750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Dysmenorrhea, Hepatocellular c...	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Hypogeusia, Irritability, Hypogonadism, Emotional lability, Decreased...	OMIM:201100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue	ORPHA:314652
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym...	OMIM:615895
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr...	ORPHA:85212
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, High palate...	OMIM:616354
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Cholestasis, O...	OMIM:615630
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de...	ORPHA:96263
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Scrub Typhus	Myocarditis, Splenomegaly, Hypotension, Lymphadenopathy	ORPHA:83317
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de...	ORPHA:96264
Fg Syndrome Type 1	Dental crowding, Micrognathia, Fused teeth, High palate, Gastroesophageal reflux, Compulsive beha...	ORPHA:93932
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Muckle-Wells Syndrome	Splenomegaly, Vasculitis, Anemia, Hepatomegaly	ORPHA:575
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr...	ORPHA:53035
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Narrow mouth, Ambiguous genital...	OMIM:617666
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia	ORPHA:99745
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Hypoglycemia, Cryptorchidism, Thrombocytopenia, Esop...	OMIM:617053
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Everted lower lip vermi...	OMIM:252930
Sialuria	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Macroglossia, High palate, Hypoplastic nipp...	OMIM:269921
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Macroglossia, Oligodontia, Protein-losing enteropathy	OMIM:618440
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolapse, Gastroes...	ORPHA:904
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D...	OMIM:615122
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Impulsivity, Micrognathia, Increased...	ORPHA:99330
Melioidosis	Abnormal parotid gland morphology, Parotitis	ORPHA:31202
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Or...	OMIM:308230
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri...	OMIM:604367
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality...	ORPHA:464329
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ...	ORPHA:379
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Pu...	ORPHA:71493
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St...	OMIM:235555
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Microretrognathia, Splenomegaly, Jaundice, Cleft lip...	OMIM:251290
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Increased fecal coproporphyrin 3, Confusion, Abnormal erythrocyte enzyme level, Abn...	ORPHA:100924
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Gingival overgrowth, Cholestasis, Thick lower l...	OMIM:246200
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive...	ORPHA:432
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Vagina...	ORPHA:79409
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ...	ORPHA:565612
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Thick lower lip vermilion, Hypoplastic frontal sinuses, Wid...	OMIM:208400
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Enlarged polycystic o...	ORPHA:744
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Vacuolated...	OMIM:230500
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra...	OMIM:301078
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Progressive neurologic deterioration, Cardiomegaly, Mi...	OMIM:608013
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Reduced natural ...	OMIM:609981
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Natal tooth, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Cariou...	OMIM:616395
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Malakoplakia	Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Abnormality of the tongue, ...	ORPHA:556
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microretrognathia, Hypoglycemia, Ventricular septal defect, Micro...	OMIM:619418
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:150550
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ...	OMIM:615512
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Mandibular prognathia, Elevated ...	OMIM:269700
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase	OMIM:306000
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability	OMIM:228000
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Atrial septal defect, Diabetes mellitus, Hypoplastic tricuspid valve, Intesti...	OMIM:600001
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas...	OMIM:618394
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo...	OMIM:222470
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Congestive heart failure, Anemia, Leukopenia, Hypertrophic cardiomyop...	OMIM:617303
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n...	OMIM:619769
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
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Atrial septal defect, Gastritis, Bicuspid aortic valve, Increased ...	ORPHA:84064
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez...	ORPHA:70475
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:2753
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon	ORPHA:163746
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ...	ORPHA:90797
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro...	OMIM:614700
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Splenomegaly, Jaundice, Neutropenia i...	ORPHA:525731
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis	OMIM:607944
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morph...	ORPHA:731
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnormality of the ...	ORPHA:363444
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Mandibular pr...	OMIM:608594
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Gm1 Gangliosidosis	Mandibular prognathia, Ventricular septal defect, Splenomegaly, Narrow mouth, Gingival overgrowth...	ORPHA:354
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho...	ORPHA:540
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Glucose intolerance, Gastroesophageal reflux, Atrial sept...	OMIM:194050
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Multiple gastric polyps, Cardiomyopath...	OMIM:225750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ...	ORPHA:79259
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ...	OMIM:603553
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop...	ORPHA:91138
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Decreas...	ORPHA:1572
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy...	ORPHA:169090
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Thromb...	OMIM:214500
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediasti...	ORPHA:809
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, L...	ORPHA:90051
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Cry...	ORPHA:3097
Benign Schwannoma	Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology	ORPHA:252164
Gaucher Disease, Type Ii	Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Trismus, Anemia, Gastroesophage...	OMIM:230900
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic...	OMIM:251880
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis...	ORPHA:2241
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp...	OMIM:216360
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden cardiac death, Cardiomeg...	OMIM:201475
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Protru...	OMIM:608779
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Intestinal pseudo-obstruction, Abnormal heart valve morp...	OMIM:309900
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Splenomegaly, Thick lower lip vermilion, Macroglossia...	ORPHA:583
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca...	OMIM:232220
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath...	ORPHA:36412
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Pericarditis, Liver abscess, Anorexia, O...	ORPHA:1304
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellul...	OMIM:614083
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se...	OMIM:604292
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Carious ...	OMIM:608233
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis, Hypochrom...	ORPHA:77297
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atr...	OMIM:601186
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Narrow mouth, Progressive psychomotor deterioratio...	OMIM:230600
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Hematemesis, Splenomeg...	OMIM:615846
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Compulsive behaviors, Atrial sep...	ORPHA:353281
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pa...	OMIM:610199
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, ST segment el...	OMIM:261740
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Apht...	OMIM:249100
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism...	ORPHA:96097
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	OMIM:276700
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Cleft palate, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy ...	ORPHA:3320
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Anemia, Calvarial osteosclerosis, Thromb...	OMIM:259700
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Ele...	OMIM:277900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Smooth philtrum, Anal stenosis, Tented upper lip vermilion, Thin upper lip ver...	ORPHA:280633
22Q11.2 Deletion Syndrome	Micrognathia, Anorectal anomaly, Hypoplasia of the thymus, Abnormality of the uterus, Gastroesoph...	ORPHA:567
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme...	ORPHA:555874
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Confusion, Leukocytosis, Dilated...	ORPHA:3260
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short attention span, Dental crowding, Rectal prolapse, Pseudohypoparathyroidism, Thin vermilion ...	OMIM:617157
Refsum Disease	Heart block, Splenomegaly, Cardiomyopathy	ORPHA:773
Familial Mediterranean Fever	Acute hepatic failure, Intestinal obstruction, Pericarditis, Malabsorption, Orchitis, Splenomegal...	ORPHA:342
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intestinal malrotation, Micrognathia	ORPHA:3035
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Dementia,...	OMIM:607625
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Micrognathia, Splenomegaly, Insulin resistance, Se...	ORPHA:280365
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Desmosterolosis	Intestinal malrotation, Micrognathia, Splenomegaly, Submucous cleft hard palate, Cleft palate, An...	ORPHA:35107
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Euthy...	ORPHA:64744
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Protein-losing en...	OMIM:619991
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Pulmonary arterial hypertension, Hepatomegaly	OMIM:612387
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function	ORPHA:277
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp...	ORPHA:2136
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Hepatic fibrosis, Bone marrow...	OMIM:224230
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Thrombocytopenia, Leukocy...	OMIM:259720
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, P...	OMIM:608149
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Scheie Syndrome	Aortic regurgitation, Splenomegaly, Hepatomegaly	ORPHA:93474
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposi...	ORPHA:447877
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest...	ORPHA:733
Mucopolysaccharidosis Type 1	Sinusitis, Abnormal heart valve morphology, Abnormality of the tonsils, Malabsorption, Splenomega...	ORPHA:579
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Lymphatic Malformation 6	Micrognathia, Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect, Inte...	OMIM:616843
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ...	OMIM:617591
Fanconi Anemia	Micrognathia, Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Atria...	ORPHA:84
Behçet Disease	Gastrointestinal hemorrhage, Pericarditis, Confusion, Anorexia, Malabsorption, Orchitis, Splenome...	ORPHA:117
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Johanson-Blizzard Syndrome	Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Atrial septal defect, Hypo...	OMIM:243800
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, H...	OMIM:269860
Lead Poisoning	Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s...	ORPHA:330015
Coffin-Lowry Syndrome	Mandibular prognathia, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow pa...	OMIM:303600
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Roifman Syndrome	Thin upper lip vermilion, Decreased circulating antibody level, Downturned corners of mouth, Long...	ORPHA:353298
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, High, narrow palate, Anomalous pulmonary...	OMIM:616368
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus, Anemia	ORPHA:99927
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating...	ORPHA:90793
Meckel Syndrome, Type 1	External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Lobulated tongu...	OMIM:249000
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Splenomegaly, Thick lower lip ver...	OMIM:252940
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Smooth philtrum, Elevated circulating luteinizing hormone level, Pyloric stenos...	OMIM:618419
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypert...	OMIM:607015
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Long penis, Gingiva...	OMIM:135500
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphade...	ORPHA:32960
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric...	ORPHA:167
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d...	ORPHA:2729
Autoimmune Lymphoproliferative Syndrome	Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative...	ORPHA:3261
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Gastrointestinal dysmotility, Gastro...	OMIM:270400
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Abnormal tricuspid valve morphology, Abnormal repetitive ma...	ORPHA:580
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Raynaud phenomenon, Splenomegaly, Jaundice...	OMIM:613471
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Thrombocytopenia, Splenomega...	ORPHA:2072
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia	OMIM:266810
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Elevated c...	OMIM:614866
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Insulin resistance, Pyloric stenosis, ...	OMIM:613327
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Hiatus hernia, Rectal prolapse, Cervical insufficienc...	ORPHA:287
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Micrognathia	OMIM:619036
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Abnormal heart valve morphology, Splen...	ORPHA:93473
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi...	OMIM:260400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Al Amyloidosis	Macroglossia, Abnormal salivary gland morphology, Xerostomia, Increased circulating antibody level	ORPHA:85443
Mednik Syndrome	Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon	OMIM:609313
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Cardiomegaly, Adenoiditis, Hepatomegaly, Hyperactivity, Hyp...	ORPHA:581
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Increased fecal coproporph...	OMIM:263700
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short attention span, Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Splenomegaly, Cryp...	OMIM:613563
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Dental crowding, Microdontia, Splenomegaly, Steatorrhea,...	OMIM:618268
Choreoacanthocytosis	Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc...	ORPHA:2796
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Ventricular septal defect, Cleft upper lip, Precocious puberty, Cr...	OMIM:194190
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Micrognathia, Pancreatic cysts, Thrombocytopenia, Leukoc...	OMIM:274000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Microphthalmia, Syndromic 1	Hypospadias, Aganglionic megacolon, Bicuspid aortic valve, Aggressive behavior, Dental crowding, ...	OMIM:309800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Gastritis, Autoimmune thrombocytopeni...	ORPHA:37042
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Hydro...	OMIM:617088
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Neonatal hypoglycemia, Female external genitalia ...	ORPHA:168558
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Maternal diabetes, Rectal fistula, Cryptorchidis...	ORPHA:49
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Neonatal hypoglycemia, Female external genitalia ...	ORPHA:289548
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,...	ORPHA:83628
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm...	OMIM:222700
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Cleft palate, Parathyroi...	ORPHA:2237
Muir-Torre Syndrome	Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Malabsorption, Agammaglobulinemia, Colitis, Cutaneous anergy, Panhypogammaglobul...	OMIM:209920
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Hepatomegaly, Hypoglycemia, Cardiomegaly, Cryptorchidism, Splenomegaly, Ab...	ORPHA:116
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Intestinal malrotation, Mitral stenosis, Ventricular septal defect, Ab...	ORPHA:955
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa...	OMIM:600376
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Throm...	OMIM:305000
Meckel Syndrome 14	Microretrognathia, Micrognathia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Re...	OMIM:619879
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Compu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Compu...	ORPHA:353277
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog...	ORPHA:576
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o...	OMIM:154230
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, M...	OMIM:613610
Oeis Complex	Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve...	OMIM:258040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous ane...	OMIM:600802
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodontia, Recurrent inf...	OMIM:612132
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hepatomegaly, Hypoplasia of penis, Atrial septal defect, Hypospadias, Hypo...	ORPHA:373
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Mandibular prognathia, Micrognathia, Cryptorchidism, Pica, Ovarian...	OMIM:614527
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia	OMIM:617913
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Hypocalcemic seizures, Decreased cir...	OMIM:612301
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess, Periodontitis, Gingivitis	OMIM:116920
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H...	ORPHA:667
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Anorexia, Carious teeth, Splenomegaly, Craniofacial oste...	ORPHA:1328
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Anorexia, Foll...	OMIM:619381
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Phimosis, Carious teeth, Esop...	ORPHA:2908
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,...	ORPHA:53715
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Mediasti...	OMIM:181000
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Jaundice,...	ORPHA:646
Cockayne Syndrome A	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Cryptorchi...	OMIM:216400
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Cleft palate, Hypoplasia of ...	OMIM:309801
Blau Syndrome	Pericarditis, Splenomegaly, Large vessel vasculitis, Lymphadenopathy, Hypertension, Abnormality o...	ORPHA:90340
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Secundum atrial septal defect, Hyperglycemia, Pancreatic hypopla...	OMIM:609069
Diphallia	Bifid scrotum, Abnormality of the gastrointestinal tract, Atrial septal defect, Rectoperineal fis...	ORPHA:227
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Hypospadias, Ventricular septal defect, Bifid uterus, Microgn...	OMIM:236680
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturi...	OMIM:137920
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an...	ORPHA:99867
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, ...	OMIM:151660
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Coffin-Siris Syndrome 1	Conical tooth, High palate, Short philtrum, Compulsive behaviors, Atrial septal defect, Microdont...	OMIM:135900
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Phocomelia, Schinzel Type	Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula...	ORPHA:2879
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure	OMIM:619431
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Recurrent sinusitis, Neutropenia	OMIM:601495
Familial Multinodular Goiter	Multinodular goiter, Ovarian neoplasm, Colorectal polyposis, Testicular seminoma, Sertoli cell ne...	ORPHA:276399
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Impaired glucose tolerance, Microcytic anemia, Cardi...	OMIM:256040
Plague	Hepatomegaly, Chapped lip, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, End...	ORPHA:707
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicu...	ORPHA:66628
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Hypoglycemia, Abnormal large intestine morphology, Micrognathia, Narrow pal...	ORPHA:109
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per...	OMIM:301040
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exaggerated median ton...	OMIM:312870
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
Exstrophy-Epispadias Complex	Bifid scrotum, Abnormality of the gastrointestinal tract, Anal stenosis, Bifid uterus, Epispadias...	ORPHA:322
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce...	ORPHA:572
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Limb-Mammary Syndrome	Absent nipple, Cleft hard palate, Cleft lip, Primary amenorrhea, Cleft palate, Bilateral breast h...	ORPHA:69085
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormal lymphocyte physiology, Abnormal primary molar morphology, Abno...	ORPHA:1830
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicu...	ORPHA:179494
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Rectovaginal fi...	ORPHA:35078
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu...	OMIM:192430
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Restrictive Dermopathy	Natal tooth, Hypospadias, Dextrocardia, Micrognathia, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Igg4-Related Ophthalmic Disease	Increased circulating IgG4 level, Orchitis, Abnormality of the anterior pituitary, Enlarged lacri...	ORPHA:449563
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
Pontocerebellar Hypoplasia Type 7	Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microph...	ORPHA:284339
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Decreased circulating IgG2 level,...	OMIM:242840
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of...	ORPHA:64
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Aplasia of the thymus	OMIM:242700
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpholo...	ORPHA:1521
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Anal atresia, Bifid uterus	OMIM:617466
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Immunodeficiency 58	Decreased circulating antibody level, Colitis, Recurrent aphthous stomatitis, Esophagitis, Decrea...	OMIM:618131
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ...	OMIM:158330
Whim Syndrome	Abnormal small intestine morphology, Severe periodontitis, Parotitis, Decreased circulating antib...	ORPHA:51636
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifi...	OMIM:107480
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Thrombocytosis, Severe periodontitis, Impaired neutrophil chem...	ORPHA:2968
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Mitral valve prolapse, Thin vermilion border, ...	OMIM:130050
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastrointestinal infarctions, Period...	ORPHA:286
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Abnormality of the anterior pituitary, Increased circulating Ig...	ORPHA:449395
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Microcolon, Ileal atresia	OMIM:619351
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Wiskott-Aldrich Syndrome	Increased circulating IgA level, Reduced natural killer cell activity, Increased circulating IgE ...	OMIM:301000
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Parotitis	ORPHA:449427
T-Cell Immunodeficiency With Thymic Aplasia	Oligoclonal T cell expansion, Aplasia of the thymus, Decreased lymphocyte proliferation in respon...	ORPHA:83471
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Anal atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Micrognathia, Cryptorchidism, Swollen lip, Cleft upper l...	OMIM:256520
Norrie Disease	Diabetes mellitus, Cryptorchidism, Irritability, Self-injurious behavior, Thin vermilion border, ...	ORPHA:649
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Pallister-Killian Syndrome	Small scrotum, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Atrial septal de...	OMIM:601803
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Esophageal ulceration, Hypodontia, Impaired T cell function	OMIM:176690
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Open mouth, Hyperactivity, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon	OMIM:619362
Primary Sjögren Syndrome	Increased circulating antibody level, Xerostomia, Parotitis, Decreased circulating antibody level	ORPHA:289390
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Loeys-Dietz Syndrome	Micrognathia, Orofacial cleft, High palate, Uterine rupture, Malar flattening, Bifid uvula	ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Rat-Bite Fever	Parotitis	ORPHA:31205
Sacral Defect With Anterior Meningocele	Rectal abscess	OMIM:600145

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 Kcnn4

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 Kcnn4.

No publications found that use IMPC mice or data for Kcnn4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Kcnn4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Kcnn4^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice
Kcnn4^{tm245315(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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Kcnn4 MGI:1277957

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 Kcnn4 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data