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Gene: Slc29a3 MGI:1918529

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Gene Summary

Name:
solute carrier family 29 (nucleoside transporters), member 3
Synonyms:
4933435C21Rik,  Ent3

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
increased circulating sodium level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.62×10-05
abnormal skin morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating LDL cholesterol level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.45×10-14
decreased circulating total protein level Slc29a3em1(IMPC)Wtsi HOM Early adult 3.70×10-20
small kidney Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
abnormal thymus morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
small thymus Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
increased circulating aspartate transaminase level Slc29a3em1(IMPC)Wtsi HOM Early adult 4.80×10-41
small uterus Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
prolonged RR interval Slc29a3em1(IMPC)Mbp HOM Early adult 1.58×10-20
decreased circulating iron level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.02×10-09
decreased circulating glucose level Slc29a3em1(IMPC)Wtsi HOM Early adult 2.00×10-08
abnormal colon morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating serum albumin level Slc29a3em1(IMPC)Wtsi HOM Early adult 5.75×10-16
decreased circulating cholesterol level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.26×10-41
enlarged lymph nodes Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alanine transaminase level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.74×10-17
enlarged ileum Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Slc29a3em1(IMPC)Mbp HOM Early adult 5.40×10-06
enlarged spleen Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
decreased hematocrit Slc29a3em1(IMPC)Wtsi HOM Early adult 0.00
abnormal caudal vertebrae morphology Slc29a3em1(IMPC)Mbp HOM   Early adult 1.19×10-06
abnormal lung morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
increased circulating amylase level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.84×10-17
increased liver weight Slc29a3em1(IMPC)Mbp HOM Early adult 3.12×10-08
increased startle reflex Slc29a3em1(IMPC)Mbp HOM   Early adult 1.29×10-05
decreased mean corpuscular hemoglobin Slc29a3em1(IMPC)Wtsi HOM Early adult 8.41×10-45
decreased hemoglobin content Slc29a3em1(IMPC)Wtsi HOM Early adult 0.00
distended jejunum Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
abnormal stomach morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
enlarged cecum Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
enlarged liver Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
abnormal seminal vesicle morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
decreased heart rate Slc29a3em1(IMPC)Mbp HOM Early adult 2.81×10-16
thrombocytopenia Slc29a3em1(IMPC)Wtsi HOM Early adult 0.00
decreased erythrocyte cell number Slc29a3em1(IMPC)Wtsi HOM Early adult 1.38×10-33
decreased mean corpuscular hemoglobin concentration Slc29a3em1(IMPC)Wtsi HOM Early adult 1.04×10-12
abnormal brain morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating triglyceride level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.72×10-05
increased leukocyte cell number Slc29a3em1(IMPC)Wtsi HOM Early adult 6.73×10-12
small seminal vesicle Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
increased lean body mass Slc29a3em1(IMPC)Wtsi HOM Early adult 3.25×10-09
decreased total body fat amount Slc29a3em1(IMPC)Wtsi HOM Early adult 4.16×10-07
increased mean platelet volume Slc29a3em1(IMPC)Wtsi HOM Early adult 0.00
increased circulating bilirubin level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.25×10-29
abnormal lymph node morphology Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
enlarged duodenum Slc29a3em1(IMPC)Mbp HOM Early adult 0.00
increased circulating chloride level Slc29a3em1(IMPC)Wtsi HOM Early adult 1.70×10-12
increased spleen weight Slc29a3em1(IMPC)Mbp HOM   Early adult 3.30×10-05
decreased circulating HDL cholesterol level Slc29a3em1(IMPC)Wtsi HOM Early adult 3.22×10-43
increased red blood cell distribution width Slc29a3em1(IMPC)Wtsi HOM Early adult 2.51×10-28

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

31 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Slc29a3 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.

The table below shows human diseases associated to Slc29a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
H Syndrome
Malabsorption, Microcytic anemia, Recurrent pharyngitis, Abnormal cardiovascular system physiolog... ORPHA:168569
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Dysosteosclerosis
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly ORPHA:1782

The table below shows human diseases predicted to be associated to Slc29a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent viral infections, Severe varicella zoster infection, Decreased proportion of CD4-positi... OMIM:300853
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe... OMIM:619437
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Myelodysplasia, Absence of lymph node germinal center, Impaired Ig c... OMIM:608184
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegal... OMIM:612840
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent... OMIM:240500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... OMIM:616050
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... OMIM:607594
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... OMIM:209950
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... OMIM:614470
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Severe v... OMIM:615122
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... ORPHA:507
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis, Neoplasm of the skin OMIM:142630
Primary Intestinal Lymphangiectasia
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... ORPHA:90362
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... OMIM:603552
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Severe varicella zoster infection, Hodgkin lymphoma, Decreased circ... OMIM:618261
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre... OMIM:608106
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, B-cell lymphoma, Persistent CMV viremia, Splenomegaly, Recurrent... OMIM:616005
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:620357
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... OMIM:224120
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Lymphoma, Decreased proportion of class... OMIM:619126
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Persistent EBV viremia... OMIM:620282
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis... OMIM:608971
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Johanson-Blizzard Syndrome
Diabetes mellitus, Failure to thrive, Hypoproteinemia, Anemia ORPHA:2315
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosple... ORPHA:911
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Lymphadenopathy, Increased proporti... OMIM:618982
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Failure to... OMIM:608104
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... ORPHA:1667
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Invasive f... ORPHA:98813
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Failure to thrive... OMIM:615895
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... OMIM:301078
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent viral infections, Recurrent ... OMIM:614868
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Hepa... OMIM:300635
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia OMIM:610738
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... OMIM:613490
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia, Amelogen... OMIM:614727
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... OMIM:613179
Reni Syndrome
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Slc35A1-Cdg
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Atypical scarring of skin ORPHA:79273
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... ORPHA:90041
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal ... OMIM:614172
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
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
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphoc... OMIM:619164
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial ... OMIM:613496
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren... OMIM:610600
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ... ORPHA:100924
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Alg8-Cdg
Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptoda... ORPHA:79325
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Lymphoma, D... ORPHA:397596
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... OMIM:618495
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Hemochromatosis, Type 2B
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... OMIM:613313
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... ORPHA:391673
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... ORPHA:83471
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Tachycardia, Increased f... OMIM:121300
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia OMIM:125800
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia OMIM:304800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Vacuolated lymphocytes OMIM:269920
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... ORPHA:101028
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia OMIM:174900
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre... OMIM:618048
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... ORPHA:169090
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... ORPHA:331235
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent abscess formation, Verrucae, Recurrent lowe... OMIM:613860
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... OMIM:214700
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy ORPHA:42642
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia OMIM:235255
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl... ORPHA:60026
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... ORPHA:486
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Mirage Syndrome
Hyponatremia, Hypoglycemia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hy... OMIM:617053
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ... ORPHA:275555
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Flexion contracture, Atypical scarring of skin, Anemia, ... ORPHA:89842
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... OMIM:619048
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple... OMIM:612526
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent b... OMIM:612783
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:607765
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... ORPHA:199299
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Mi... OMIM:616201
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia ORPHA:1655
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failure to thrive, Anemia ORPHA:79312
Papular Xanthoma
Histiocytosis ORPHA:158008
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:306400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... OMIM:617718
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Recurrent opportunistic infections, Increased circulating ... ORPHA:277
Gaucher Disease Type 2
Hepatomegaly, Recurrent respiratory infections, Dystonia, Cardiac arrest, Splenomegaly, Dysphagia ORPHA:77260
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Pleural Mesothelioma
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Abnormal cardiovascular syste... ORPHA:50251
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive OMIM:177735
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypernatremia ORPHA:223
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:235555
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Flexion contracture, Leukopenia, Hypoalbuminemia, Neutropenia, An... OMIM:617303
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... ORPHA:859
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia OMIM:617173
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Decr... ORPHA:14
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infections, BCGo... ORPHA:319552
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive OMIM:614736
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia ORPHA:27
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:139406
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, B-cell lymphoma, Autoimmune t... OMIM:102700
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:203400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Int... OMIM:243150
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent tonsillitis, Recurrent pneumonia OMIM:613779
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane... OMIM:614857
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Webb-Dattani Syndrome
Hypernatremia, Obesity OMIM:615926
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive, Anemia ORPHA:97362
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Abnormal adipose tissue morphology, Hypoalbuminemia, B lymp... ORPHA:79324
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Recurrent pneumonia, Sepsis, Anemia, Recurre... OMIM:617475
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Scoliosis, Dysphagia OMIM:616276
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Kyphosis ORPHA:796
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Syndromic Diarrhea
Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla... ORPHA:84064
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre... ORPHA:85450
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Bacterial Toxic-Shock Syndrome
Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating crea... ORPHA:36234
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... ORPHA:29073
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... OMIM:557000
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... ORPHA:95409
Mpi-Cdg
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Chromosome breakage, Lymphoproliferative disorder... OMIM:609981
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Steatorrhea,... OMIM:212065
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Gastrointestinal dysmotility, Jaundice, Neutropenia, Ent... ORPHA:90051
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... ORPHA:199296
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... ORPHA:79277
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Shigellosis
Hyponatremia, Failure to thrive in infancy, Abscess, Hypoglycemia, Leukocytosis, Abnormal blood i... ORPHA:810
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... OMIM:617093
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... OMIM:608800
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Failure to thrive, Hyperaldosteronism, Hyperkalemia OMIM:264350
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Weight loss ORPHA:178029
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardio... OMIM:618815
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F... OMIM:251000
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly OMIM:604273
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion c... OMIM:617591
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... OMIM:604416
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia OMIM:245900
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Scarring, Anemia ORPHA:79473
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:319487
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia, Steatorrhea OMIM:602579
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... OMIM:277900
Propionic Acidemia
Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Failu... OMIM:606054
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:97290
Cln3 Disease
Vacuolated lymphocytes, T-wave inversion, Bradycardia, Dysphagia, Left ventricular hypertrophy, U... ORPHA:228346
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... ORPHA:682
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Liver Disease, Severe Congenital
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia OMIM:617182
Bronchogenic Cyst
Abnormal peritoneum morphology, Back pain, Pulmonary cyst, Pneumonia, Abnormal pleura morphology,... ORPHA:2357
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive OMIM:613090
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Dysphagia OMIM:620265
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepatosplenomeg... OMIM:619644
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Failure to thrive, Anemia OMIM:619487
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... ORPHA:85443
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha... OMIM:619858
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Whipple Disease
Hyponatremia, Cachexia, Splenomegaly, Insulin resistance, Anemia ORPHA:3452
Axial Mesodermal Dysplasia Spectrum
Short neck, Abnormality of the spleen, Anorectal anomaly, Abnormality of the ureter, Tracheoesoph... ORPHA:1834
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Overlap Myositis
Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Abnormality of... ORPHA:206572
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... ORPHA:85138
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:229050
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... OMIM:620210
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... ORPHA:37748
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251110
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut... ORPHA:281090
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Immunodeficiency 27B
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... OMIM:615978
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia OMIM:611209
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Neut... ORPHA:47
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... ORPHA:99901
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Hypoglycemia, Normochromic anemia ORPHA:95613
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Fai... OMIM:208085
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Congest... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... ORPHA:275761
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive, Anemia ORPHA:79396
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hypoglycemic seizures, Obesity, Hyperbilirubinemia OMIM:609734
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec... OMIM:214500
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Op... ORPHA:335
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at... OMIM:617784
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly OMIM:616737
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ... ORPHA:293978
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... ORPHA:2869
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo... OMIM:619055
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:601847
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level ORPHA:95715
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Myocarditis, Congestive heart failure, Splenomegaly, Lymphad... ORPHA:3386
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Juvenile Polyposis Of Infancy
Refractory anemia, Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Anemia ORPHA:79076
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... ORPHA:26790
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... OMIM:602390
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure ORPHA:75234
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Small for gestational age, Elevated circulating creatine kinase concentratio... OMIM:618775
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ... OMIM:608233
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration OMIM:301054
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Immunodeficiency 12
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... OMIM:615468
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, Decr... ORPHA:183675
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,... ORPHA:79230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp... OMIM:227810
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Ventricular t... OMIM:212138
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia ORPHA:95512
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Pancytopenia, Small for gestational age, Hypoglycemia, Hypoalbuminemia, Hypocalc... OMIM:613658
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilir... ORPHA:39812
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... OMIM:257200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Leukopenia, Hypoalbuminemia, Hernia, A... ORPHA:505248
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Malabsorption, Crypt... ORPHA:99812
Dextrocardia
Abnormal EKG, Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morpholog... ORPHA:1666
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, High palate, Bradycardia, Median c... ORPHA:40366
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... OMIM:617156
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:611762
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:211600
Wt Limb-Blood Syndrome
Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... OMIM:601346
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Back pain, Pancreatic adenocarcinoma, Intestinal pseudo-obstructio... ORPHA:1333
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Abnor... ORPHA:99745
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Legionnaires Disease
Hyponatremia, Splenomegaly, Lymphopenia, Cellulitis ORPHA:549
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia, Large for gestational age OMIM:619075
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo... OMIM:618419
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly,... ORPHA:47612
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo... ORPHA:99827
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... OMIM:277380
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Cardiomyopathy, Hypogonadism, Hepatomegaly OMIM:608540
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... OMIM:615816
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... OMIM:610377
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B... OMIM:601076
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Weight loss ORPHA:79242
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia ORPHA:95513
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of neutrophils, Thrombocyto... ORPHA:229717
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:613812
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Dystonia OMIM:616277
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypoglycemia OMIM:618329
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria, Lacunar stroke, Macroglossia, Mucopol... OMIM:618440
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H... ORPHA:99826
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Normochromic anemia ORPHA:91355
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Abnormal renal cor... OMIM:617397
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... OMIM:615160
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Hypertrophic cardiomyopathy, Bradycardia, Dystonia, Pleural effusion, Ascites OMIM:614702
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... ORPHA:73272
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Polycythemia, Hyperbilirubinemia OMIM:606812
Immunodeficiency 32A
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... OMIM:300972
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, Ly... ORPHA:381
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia OMIM:259700
Microphthalmia, Syndromic 9
Cryptorchidism, Agenesis of pulmonary vessels, Multilobulated spleen, Renal hypoplasia, Horseshoe... OMIM:601186
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Patent... OMIM:612541
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Abnormal form of the vertebral bodies, Annular pan... ORPHA:1305
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Prolonged neonatal jaundice, Bradycardia, Goiter ORPHA:226313
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp... OMIM:601678
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Whim Syndrome
Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutro... ORPHA:51636
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration, Anemia OMIM:121270
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Sepsis, Decreased circulating IgG level, Autoimmune thrombocytopenia... OMIM:614700
Galactokinase Deficiency
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of... ORPHA:79237
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Cystic Echinococcosis
Abscess, Eosinophilia, Weight loss, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess ORPHA:400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Bradycardia, Dysphagia, Arrhythmia OMIM:609286
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... ORPHA:2930
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Familial Thyroid Dyshormonogenesis
Macroglossia, Prolonged neonatal jaundice, Bradycardia, Goiter ORPHA:95716
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase... ORPHA:89938
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Thrombocytopenia ORPHA:141184
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... ORPHA:90791
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, H... OMIM:616589
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Intestinal obstruction, Proteinuria, Myocardial infarction, ... ORPHA:342
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypochloremia, Hyp... OMIM:241200
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce... ORPHA:361
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... OMIM:610965
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, D... ORPHA:2470
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Cardiomegaly, Ventricular tachycardia, Atrioventric... OMIM:601005
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Failure to thrive OMIM:300200
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hemolytic anemia, Gastritis, Myocarditis... ORPHA:809
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia, Dystonia OMIM:614654
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin ORPHA:423479
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Esophageal atr... ORPHA:2538
Satoyoshi Syndrome
Hypoplasia of the uterus, Malabsorption OMIM:600705
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Unilateral renal agen... OMIM:216360
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Ascites, Steatorrhea, Hepat... ORPHA:75233
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Gastroesophageal r... ORPHA:2414
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Tetanus
Tachycardia, Elevated urinary norepinephrine level, Tremor, Elevated urinary epinephrine level, O... ORPHA:3299
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Proteinuria, Epistaxis, Elevated circulating aspartate aminotrans... OMIM:614034
Caroli Syndrome
Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilir... ORPHA:480520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Aplastic anemia, Short neck, Esophageal atresia, Abnormal lung lo... OMIM:300514
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypospadias, Opisthotonus, High palate, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:619151
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c OMIM:619278
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Aplasia/Hypoplasia of ... ORPHA:1046
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Gastroesophageal reflux, Bradycardia, Opisthotonus OMIM:619814
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Renal insufficiency, Lymphopenia, Resting tremor, Myocardit... ORPHA:319213
Juvenile Polyposis Syndrome
Brain abscess, Multiple lipomas, Rectocele, Failure to thrive, Hypoproteinemia, Anemia ORPHA:2929
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Short neck, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Mitral r... OMIM:619750
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Back pain, Atrial flutter, Abnormal cardiac ventricula... ORPHA:439232
Familial Hypoaldosteronism
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level ORPHA:427
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm OMIM:310465
Glycogen Storage Disease Ixb
Splenomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Muckle-Wells Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:191900
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Biconvex vertebral bodies, Eosinophilia, Splenomegaly... OMIM:616651
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Recurrent infectio... ORPHA:108
D-Glyceric Aciduria
Opisthotonus, Aminoaciduria, Gastroesophageal reflux, Bradycardia, Micropenis OMIM:220120
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... ORPHA:6
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia OMIM:615085
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... ORPHA:544482
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:120100
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Enamel hypoplasia... OMIM:614576
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive OMIM:602522
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... ORPHA:100078
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia OMIM:214950
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly, Recurrent pneumonia, High palate OMIM:615637
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Aminoaciduria, Hepatic failure ORPHA:664
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... OMIM:603467
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Decreased body weight OMIM:614886
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... ORPHA:470
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti... OMIM:200995
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... OMIM:154230
Ataxia-Telangiectasia
Recurrent respiratory infections, Abnormality of chromosome stability, Decreased circulating anti... ORPHA:100
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... OMIM:608836
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cirr... OMIM:613489
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Nephroblastoma
Lymphadenopathy, Hematuria, Hypertension, Neoplasm of the lung, Neoplasm of the liver ORPHA:654
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the pancreas, Abnormal... ORPHA:54251
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome... OMIM:105200
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Malabs... ORPHA:379
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Arrhythmia, Microcolon ORPHA:163746
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Caroli Disease
Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal c... ORPHA:53035
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Failure to thrive, Glycosuria OMIM:613404
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophi... ORPHA:353298
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Hypospadias, Esophageal atresia, Pulmonary artery stenosis, Par... OMIM:265380
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... ORPHA:234
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Epistaxis, Abn... ORPHA:33226
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive ORPHA:90790
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... OMIM:260920
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... ORPHA:3162
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormality of the spleen... ORPHA:33276
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Rec... ORPHA:1572
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Spl... ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi... OMIM:619386
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... ORPHA:348
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... OMIM:617099
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Kyphosis, Congenital pyloric atresia, Vertebral segmentation defect, Scoliosis ORPHA:2617
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Cardiomyopathy, Ab... ORPHA:93476
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytop... ORPHA:487796
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Bradycardia, Atrioventricular block, Intention tremor OMIM:614407
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly OMIM:619751
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Junctional ectopic tachycardia, Cleft palate, Micro... OMIM:309801
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal... OMIM:229850
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Peptic ulcer,... ORPHA:98849
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Diabetes mellitus, Scarring, Abnormal erythrocyte e... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Short neck, Cryptorchidism, Platyspondyly, Dysphagia OMIM:618958
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Hartsfield Syndrome
Hypernatremia OMIM:615465
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... ORPHA:542306
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Hypoglycemia, Hyperuricemia, Hyperammonemia OMIM:246450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Portal fibrosis, Hepatic fibrosis, Cirr... ORPHA:369
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper r... OMIM:252930
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Castleman Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Weight loss, Decreased m... ORPHA:160
Cinca Syndrome
Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ... ORPHA:1451
H Syndrome
Malabsorption, Microcytic anemia, Recurrent pharyngitis, Abnormal cardiovascular system physiolog... ORPHA:168569
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... OMIM:222700
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... ORPHA:70587
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Fryns Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Short n... ORPHA:2059
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis, Penile freckling ORPHA:210548
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proport... ORPHA:1830
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Sepsis, Lymphadenopathy, Abnorm... ORPHA:39041
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal ... ORPHA:567983
Sialidosis Type 2
Hepatomegaly, Tremor, Splenomegaly, Kyphosis, Nephropathy, Ascites ORPHA:87876
Reynolds Syndrome
Calcinosis, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia OMIM:613471
Hereditary Chronic Pancreatitis
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration ORPHA:676
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Vasculitis, Lymph... ORPHA:343
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... ORPHA:79240
Alpha-Mannosidosis
Recurrent respiratory infections, Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Narrow palate... ORPHA:61
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Peritonitis, Cervical lymphade... ORPHA:2686
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Müllerian Aplasia And Hyperandrogenism
Short neck, Cleft palate, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of th... ORPHA:247768
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Recurr... OMIM:614162
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia OMIM:617729
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Anemia OMIM:611489
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,... OMIM:304790
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus ORPHA:290
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Hemolytic anemia, Aplastic an... ORPHA:398124
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Tricuspid stenosi... ORPHA:100079
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Tricuspid regurgitation, Spinal rigidity, Kyphosis, High palate, Bradycardia,... OMIM:620351
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Cold Agglutinin Disease
Back pain, Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Tularemia
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess ORPHA:3392
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Umbilical hernia, Hypercholesterolemia, Failure to thri... ORPHA:90674
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectasis, Abnormal p... OMIM:612387
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Elevated circulating creatine kinase concentration, Hype... OMIM:618120
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increase... ORPHA:3261
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Recurrent bacterial infections, Ascites, M... ORPHA:36412
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short neck, Cryptorchidis... ORPHA:3376
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c OMIM:616113
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Metachromatic Leukodystrophy
Dystonia, Urinary incontinence, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladder,... ORPHA:512
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia ORPHA:69665
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Lymphade... ORPHA:1332
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung, Dysphagia, Nodular goiter, Goiter ORPHA:142
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Elevated circulating creatine kinase concentration, Leukopenia, Arthro... OMIM:301056
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... ORPHA:221139
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... ORPHA:168558
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Tachycardia, Unilateral cryptorchidism, Intestinal malrotation, ... OMIM:618280
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft pala... OMIM:243605
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, T... ORPHA:171
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Bradycardia, Scoliosis, Leg dystonia ORPHA:565624
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia OMIM:253270
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... ORPHA:289548
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Oligosacchariduria, Macroglossia, High palate, Scoliosis OMIM:616354
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal intervert... ORPHA:887
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Recurrent ph... ORPHA:829
Aa Amyloidosis
Hepatomegaly, Proteinuria, Malabsorption, Chronic kidney disease, Cholestasis, Nephrotic syndrome... ORPHA:85445
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Senior-Boichis Syndrome
Hepatosplenomegaly, Anemia, Increased total bilirubin ORPHA:84081
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity OMIM:620155
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Galloway-Mowat Syndrome 1
Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th... OMIM:251300
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... ORPHA:2268
Dubowitz Syndrome
Acute lymphoblastic leukemia, Inguinal hernia, Aplastic anemia, Hypocholesterolemia OMIM:223370
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly OMIM:235510
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... ORPHA:100093
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegal... ORPHA:464329
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Pulmonary hypoplasia, Intestinal malrotation ORPHA:3035
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Hig... ORPHA:85212
Dietary Iron Overload Disease
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Congestive heart failure, Micronodular cirrhosi... ORPHA:139507
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... ORPHA:534
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Atrophic scars, Abnormal circ... ORPHA:542643
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Hypertension, Hepatic steatosis, Pancreatitis ORPHA:79084
Perrault Syndrome 4
Increased circulating gonadotropin level, Cleft palate, Hypoplasia of the uterus, Bicornuate uter... OMIM:615300
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity ORPHA:391
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P... OMIM:260400
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Infant Botulism
Hyponatremia ORPHA:178478
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula, Vaginal atresia OMIM:616258
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... OMIM:614520
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Pierson Syndrome
Hypoproteinemia OMIM:609049
Japanese Encephalitis
Hyponatremia, Neutrophilia, Elbow flexion contracture ORPHA:79139
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Bilateral trilobed lung, Ureteral stenosis, Abs... OMIM:270100
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Jaw claudication, Syncope, Bradycardia, Abnormality of th... ORPHA:221098
Multiple Endocrine Neoplasia Type 2
Pheochromocytoma, Ganglioneuromatosis, Elevated urinary vanillylmandelic acid, Cervical neoplasm,... ORPHA:653
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, Hepatomegaly, Scoliosis, Abnormal testis morpholog... ORPHA:1775
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Nephrotic syndrome, At... ORPHA:834
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Pleural effusion ORPHA:85414
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Generaliz... ORPHA:50918
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Short neck, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, T... OMIM:606003
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy ORPHA:79292
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Gastroesophageal reflux, Bradycardia, Thoracic kyphosis, ... ORPHA:70
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegal... OMIM:201475
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Prolonged neonatal jaundice, Thyroid hypoplasia, Goiter ORPHA:90673
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Intestinal malrotation, Short nec... ORPHA:2308
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulat... OMIM:170100
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Short neck, Heparan sulfate excretion in urine, Cong... OMIM:309900
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Bradycardia OMIM:610015
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Abnormal external genitalia, Intestinal malr... ORPHA:1199
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Sarcoidosis
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Nephrocal... ORPHA:797
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Left ventricular hypertrophy, ... OMIM:242840
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Hepatomegaly OMIM:620296
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai... ORPHA:90794
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... OMIM:248500
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Bilateral trilobed lung, Absence of the sacrum, Block vertebrae, Cardiomegaly, Post... OMIM:306955
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Intestinal polyposis, Multicystic kidney dysplasia, Vaginal neoplasm, Abnor... ORPHA:1052
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100080
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Splenomegaly, Vasculitis, Multiple gastric... OMIM:225750
Gm1 Gangliosidosis
Recurrent respiratory infections, Generalized dystonia, Dystonia, Hyperlordosis, Tremor, Congesti... ORPHA:354
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Imbalanced hemoglobin synthes... ORPHA:330015
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Intestinal obstruction, Orchitis, Splenomegaly, Peritonitis, Vasculitis, Recurrent ... ORPHA:32960
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, Cryptor... ORPHA:912
Satoyoshi Syndrome
Hyperlordosis, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... ORPHA:3130
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Vertebral c... OMIM:230800
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper res... OMIM:252920
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Short neck, Cryptorchidism, Cleft palat... OMIM:257300
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Pleuritis OMIM:142680
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Abno... ORPHA:1318
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Brucellosis
Liver abscess, Bronchitis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Epid... ORPHA:1304
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... ORPHA:36238
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... ORPHA:779
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Majeed Syndrome
Hepatomegaly, Proteinuria, Malabsorption, Congenital hypoplastic anemia, Splenomegaly, Leukocytos... ORPHA:77297
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Urinary incontinence, Cardio... OMIM:268800
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Splenomegaly, Hyperglycinemia, Increased total iro... ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... OMIM:300400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract... OMIM:252900
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of lymph node g... ORPHA:90186
Sengers Syndrome
Thrombocytopenia OMIM:212350
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Hydronephrosis, High palate, Micropenis, Decr... OMIM:619185
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased response to growth hormone ... ORPHA:226307
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Smith-Kingsmore Syndrome
Umbilical hernia, Hypoglycemia, Thrombocytopenia, Large for gestational age OMIM:616638
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomeno... OMIM:615688
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract... OMIM:137920
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Hiatus hernia, Pancreatic cysts, Sple... OMIM:610199
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia ORPHA:93598
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Car... ORPHA:79255
Holoprosencephaly
Hyponatremia, Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congeni... ORPHA:2162
Oeis Complex
Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly placed anus, Ambiguous genital... OMIM:258040
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Kyphosis,... ORPHA:77259
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... OMIM:615415
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Hyperammonemia, El... ORPHA:79282
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis, Hyperglyc... ORPHA:134
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lumbar hyperlordosis, Thoracic kyph... OMIM:613385
Sialuria
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Scoliosis, Increased ... OMIM:269921
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Reduced blood urea n... OMIM:219800
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Tricuspid stenosis, Asplenia, Esophageal atresia, Gastrointest... OMIM:164280
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Esophageal atresia, Tracheoesophageal ... OMIM:614083
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Hypomagnesemia, Thro... ORPHA:699
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc... ORPHA:2796
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100082
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent... OMIM:605309
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Right ventricular hypertrophy ORPHA:353
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Atelectasi... ORPHA:538
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Hydronephrosis,... OMIM:617798
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ... OMIM:256040
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Intestinal malrotation, Tracheoesophageal fistula, High palate, Scolio... ORPHA:115
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Dysuria, Pneumonia, Esophageal str... ORPHA:79404
Microform Holoprosencephaly
Hypoplasia of penis, Cleft palate, Scoliosis, Ambiguous genitalia, Panhypopituitarism, Duodenal a... ORPHA:280200
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Lymphopenia, Proteinu... ORPHA:93552
Scrub Typhus
Renal insufficiency, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension ORPHA:83317
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Sea-b... OMIM:230600
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonic stenosis, Pulmona... OMIM:616028
Fructose Intolerance, Hereditary
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa... OMIM:229600
Zimmermann-Laband Syndrome
Hepatomegaly, Abnormal external genitalia, Short neck, Splenomegaly, Cleft palate, Macroglossia, ... ORPHA:3473
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Br... OMIM:620233
Distal Deletion 12Q
Unilateral cryptorchidism, Kyphoscoliosis, Ectopic kidney, Short neck, High, narrow palate, Esoph... ORPHA:96149
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... ORPHA:3260
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... ORPHA:97287
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fis... OMIM:619227
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, C... ORPHA:587
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Bohring-Opitz Syndrome
Recurrent respiratory infections, Cardiomegaly, Cleft palate, Urinary retention, Bradycardia, Cho... ORPHA:97297
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis, Hyperglycemia ORPHA:90065
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... ORPHA:2968
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Wilson Disease
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia ORPHA:905
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Aminoacidu... OMIM:214110
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Congenital Tracheal Stenosis
Fetal ascites, Abnormal stomach morphology, Abnormal lung morphology, Abnormality of the ureter, ... ORPHA:141127
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Splenomegaly, Corneal scarring, Atypical scarring of skin, Elevated circulating... OMIM:263700
Immunodeficiency 22
Abscess, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to th... OMIM:615758
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Pylo... ORPHA:464306
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... ORPHA:2785
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Recurrent respiratory infections, Lumbar hyperlordosis, Dys... OMIM:230000
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Absent external genitalia, Short neck, Hemivertebrae, Urethral... OMIM:271520
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... OMIM:614866
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Short neck, Splenomegaly, Atelectasis,... OMIM:269860
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol... ORPHA:99931
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Tremor, Congestive heart failur... ORPHA:525731
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Abnormality of the tonsils, Malabsorption, Splenomegaly, Conges... ORPHA:579
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pneumonia, Myocarditis, Splenomegaly, ... ORPHA:781
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Seckel Syndrome 7
Hypoplasia of the uterus, Lumbar scoliosis OMIM:614851
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Ogden Syndrome
Inguinal hernia, Maternal diabetes, Iron deficiency anemia, Minimal subcutaneous fat, Hyperbiliru... OMIM:300855
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100075
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... ORPHA:139411
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ... OMIM:276700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Microvesicular hepatic steatosis, Splen... OMIM:619418
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, High pa... OMIM:251290
Marden-Walker Syndrome
Hypospadias, Short neck, High, narrow palate, Pyloric stenosis, Cryptorchidism, Kyphosis, Renal h... OMIM:248700
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Kyphosis, Renal cys... ORPHA:464311
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertension, Cirrhosis... ORPHA:79083
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Hyperparat... ORPHA:913
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Heparan sulfate excretion i... OMIM:607015
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Neuropathic spinal arthropathy, High, narrow palate,... ORPHA:3166
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Failure to thrive, Anemia ORPHA:3322
Grfoma
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... ORPHA:97261
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, High palate, Decreased response to growth hormone stimulation test OMIM:615866
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Tremor, Jaundice, Neutropenia, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, ... OMIM:617248
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Mednik Syndrome
Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon OMIM:609313
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyop... ORPHA:2348
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Congestive heart f... ORPHA:528
Lig4 Syndrome
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Type II diabetes mellitus,... OMIM:606593
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Myocardial ... ORPHA:117
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Recurrent hypogly... ORPHA:20
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Neutropenia, Meckel... OMIM:616395
Smith-Lemli-Opitz Syndrome
Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... OMIM:270400
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Sex reversal, Pulmonary hypop... ORPHA:139466
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion... OMIM:253220
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Microcytic anemia, Congestive hear... ORPHA:90308
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag... OMIM:249100
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Cleft palat... ORPHA:3426
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Short neck, Heparan sulfate... OMIM:607014
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Hepatic fai... OMIM:619431
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Thymoma, Decreased circulating... ORPHA:227990
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Short neck, Splenomegaly, Congestive heart failure, Di... OMIM:230500
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Vasculitis, Lymphad... ORPHA:83313
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Short neck... ORPHA:263487
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... OMIM:619355
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Failure to thrive, Small for gestational age OMIM:618252
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... ORPHA:77293
Degcags Syndrome
Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Hiatus hernia, Hepatosple... OMIM:619488
Shwachman-Diamond Syndrome 2
Normocytic anemia, Steatorrhea, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:617941
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Hennekam Syndrome
Recurrent respiratory infections, Lymphopenia, Ectopic kidney, Malabsorption, Splenomegaly, Pylor... ORPHA:2136
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Papa Syndrome
Proteinuria, Crohn's disease, Lymphadenopathy ORPHA:69126
Familial Dysautonomia
Hyponatremia ORPHA:1764
Niemann-Pick Disease, Type C2
Hepatomegaly, Dystonia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia,... OMIM:607625
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Neoplasm of... ORPHA:556
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Chromomycosis
Recurrent bacterial infections, Lymphangiectasis, Multiple cutaneous malignancies, Squamous cell ... ORPHA:182
Juvenile Sialidosis Type 2
Hepatomegaly, Protruding tongue, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Dysph... ORPHA:93399
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Cardiac arrest, Eosino... ORPHA:139402
Galactosemia I
Hepatomegaly, Hemolytic anemia, Hypergonadotropic hypogonadism, Elevated circulating aspartate am... OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Braddock-Carey Syndrome 1
Enamel hypoplasia, Thrombocytopenia, Camptodactyly OMIM:619980
Thyroid Lymphoma
Goiter, Lymphadenopathy, Dysphagia ORPHA:97285
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Hypoplasia... OMIM:613177
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Thymoma, Decreased circulating... ORPHA:227982
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Protruding tongue, Respiratory tract infection, Hepatosplenomegaly, T... ORPHA:93400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, High palate, Bradycardia, Gastroesophageal reflux OMIM:614653
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly... ORPHA:508542
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Generalized lymphadenopathy, Hemolytic anemia, Pneumonia, Pancy... OMIM:615846
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Precocious puberty, Tremor, Hepatosplenomegaly, Aspiratio... ORPHA:845
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Lumbar hyperlordosis, Pneumonia, Ovoid vertebral bodies, K... OMIM:253200
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra... OMIM:614921
Deeah Syndrome
Hepatomegaly, Decreased hemoglobin concentration, Cervical hemivertebrae, Decreased heart rate va... OMIM:619004
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Re... ORPHA:93111
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia ORPHA:169105
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, ... ORPHA:79330
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Pyloric stenosis, Cryptorchidism, Cleft palate, High palate, Scoliosis, Bifid... ORPHA:96184
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Ileus, Recu... OMIM:219700
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Recurrent upper respiratory tract inf... ORPHA:583
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop... OMIM:242900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Kyphosis... OMIM:615381
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... OMIM:607361
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Ulnar-Mammary Syndrome
Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Ectopic anus, Breast apl... ORPHA:3138
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate ORPHA:314575
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Cryptorchidism, Cleft palate, Pelvic kidney, Recurrent aspiration pneumonia, Duode... OMIM:247200
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, Gastroesophageal ... OMIM:616975
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megacystis, Hydronephrosis, U... OMIM:155310
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hypospadias, Horseshoe kidney, Cryptorchidism OMIM:218350
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Left ventric... ORPHA:57777
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... OMIM:602557
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Abnormality of the tonsils, Shor... ORPHA:93473
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... OMIM:608779
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Thoracic scoliosis, Pilonidal sinus, Short neck, Heparan sulfate excretion in urine... OMIM:252940
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Failure to thrive OMIM:618426
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
Okamoto Syndrome
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Intestinal m... ORPHA:2729
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Sterile pyuria, Tubulointerstitial nephritis, Cholecysti... ORPHA:449395
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia ORPHA:293987
Hyperekplexia 3
Exaggerated startle response, Syncope, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Tick-Borne Encephalitis
Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:297
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pul... OMIM:619351
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Butterfly vertebral arch, Cryptorchidism, Abnormality o... ORPHA:52
Meckel Syndrome 14
Tricuspid regurgitation, Short neck, Pneumothorax, Mitral regurgitation, Hepatic fibrosis, Pulmon... OMIM:619879
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism OMIM:300406
Urachal Cyst
Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration ORPHA:488
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Telangiectasia of the skin, Horseshoe kidney... ORPHA:2092
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Fg Syndrome Type 1
Sacral dimple, Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric st... ORPHA:93932
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Flexion contracture, Leukopenia, Neutropenia, Neonatal hypoglycemia OMIM:616271
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Peters Plus Syndrome
Intestinal fistula, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Sacral dimpl... ORPHA:709
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Kleefstra Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernum... ORPHA:261494
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, Midgut malrotation, High, narrow palate, Pyloric stenosis,... ORPHA:2409
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure ORPHA:60
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Cryptorchidi... ORPHA:251066
Cranioectodermal Dysplasia 2
Splenomegaly, Inguinal hernia, Polysplenia, Hyperbilirubinemia OMIM:613610
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Coccidioidomycosis
Pericarditis, Abnormal sperm morphology, Renal insufficiency, Pneumonia, Eosinophilia, Abnormalit... ORPHA:228123
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Respiratory tract infection, Mediasti... ORPHA:79128
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrio... OMIM:115197
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Subarachnoid hemorrhage, Malabsorption OMIM:277175
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal form of the vertebral bodies, Gastroesophag... ORPHA:73230
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Decreased response to growth hormone stimulation te... OMIM:614114
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, S... ORPHA:422
Periventricular Nodular Heterotopia
Aortic regurgitation, Pyloric stenosis, Gastroesophageal reflux, Scoliosis ORPHA:98892
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Pyloric stenosis, High palate, Cryptorchidism OMIM:310400
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90033
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd... ORPHA:652
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hyper... OMIM:203800
Immunodeficiency 92
Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory... OMIM:619652
Cutaneous Mastocytoma
Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m... ORPHA:584
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Cleft palat... OMIM:274000
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ... OMIM:617466
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:613989
Poems Syndrome
Thrombocytosis, Lymphadenopathy, Hypogonadism, Sclerotic vertebral endplates, Pulmonary arterial ... ORPHA:2905
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hematochezia, Hamartomatous polyposis, Protein-losing enteropathy, Gas... OMIM:175500
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Malabsorption, Splenomega... ORPHA:93
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Elev... ORPHA:97278
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Malabsorption, Recurrent upper respiratory tract infections, Decreased proportion o... OMIM:233600
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... ORPHA:79665
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Igg4-Related Ophthalmic Disease
Cholangitis, Eosinophilia, Orchitis, Retroperitoneal fibrosis, Abnormal lung morphology, Abnormal... ORPHA:449563
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spl... OMIM:619534
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Thromboc... ORPHA:2072
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Flexion contracture, Reticulocytopenia, Anemia, Neutrope... OMIM:227645
Chops Syndrome
Splenomegaly, High, narrow palate, Cryptorchidism, Horseshoe kidney, Anomalous pulmonary venous r... OMIM:616368
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Short neck, Cr... OMIM:261540
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Elev... ORPHA:97283
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Pleural effusion, Gastroesophageal reflux, Chylothorax, Scoliosis... OMIM:616843
Pagod Syndrome
Multicystic kidney dysplasia, Sudden cardiac death, Abnormality of the spleen, Agonadism, Pulmona... ORPHA:991
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Autoimmune thr... OMIM:607944
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia ORPHA:96181
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Epididymitis,... ORPHA:2035
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Horseshoe kidney, Fused cervical vertebrae, Aplasia of the uterus, Scoliosis, Throm... ORPHA:3320
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr... ORPHA:79259
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Malabs... ORPHA:97282
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Hypertrophic cardiomyopathy OMIM:619053
Koolen-De Vries Syndrome
Ureteral duplication, Vertebral fusion, Hypospadias, High, narrow palate, Pyloric stenosis, Crypt... ORPHA:96169
Encephalitis Lethargica
Tremor, Urinary incontinence, Bradycardia ORPHA:83600
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level, High palate OMIM:110100
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Bronchitis, Xerostomia, Tubulointerstitial nephritis... ORPHA:289390
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Cornelia De Lange Syndrome 1
Ectopic kidney, Short neck, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux... OMIM:122470
Alg9-Cdg
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Torticollis, Hepatic cysts, Ureteral hypo... ORPHA:79328
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuria, Hypophospha... OMIM:616026
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Neoplasm of the lung, H... ORPHA:662
Zygomycosis
Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Neutropenia, Nephritis, ... ORPHA:73263
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Congestive heart failur... OMIM:615512
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatic failure, Thrombocytopenia, Hepatosplenomegaly, ... OMIM:608013
Scedosporiosis
Pericarditis, Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pleuritis, Abnormal jej... ORPHA:449280
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Tremor, Splenomegaly, Hypogonadism, Decreased testicular size OMIM:201100
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o... ORPHA:333
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Feingold Syndrome Type 1
Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal at... ORPHA:391641
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Intestinal malrotation, Malformation of the hepati... OMIM:249000
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Pyloric stenosis, Cryptorchidism, Penoscrotal transposition, Anterior... OMIM:619148
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noni... ORPHA:97289
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Precocious puberty, Cryptorchidis... OMIM:194190
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Hypospadias, Mitral stenosis, Intestinal malrotat... ORPHA:955
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Malabsorption, Cardiomegaly, Splenomegaly, Hepa... ORPHA:581
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia OMIM:620072
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Ureteral duplication, Short neck, High, narrow palate, ... ORPHA:373
Duodenal Atresia
Duodenal atresia OMIM:223400
Noonan Syndrome
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormality of the spleen, Cryptorchidism, Pulmonary... ORPHA:648
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorch... OMIM:614527
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Thrombocytopenia, Gastroesophageal reflux, Dysphagia, Bronchiolitis, ... OMIM:230900
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Pituitary aden... ORPHA:733
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... ORPHA:280365
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Duodenal ulcer, Tremor OMIM:190310
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t... ORPHA:722
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis OMIM:617219
Porphyria, Acute Intermittent
Tachycardia, Urinary incontinence, Dysuria, Paralytic ileus, Hypertension, Urinary retention, Hep... OMIM:176000
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pneumothorax, Bronchiectasis, Lymphadenopathy ORPHA:411703
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Lymphoma, Recu... OMIM:210900
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am... ORPHA:1772
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Sup... ORPHA:75249
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidis... OMIM:619005
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:620305
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tremor, Tubulointerstitial ... ORPHA:90068
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc... ORPHA:2969
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sa... ORPHA:175
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Stiff-Person Syndrome
Tachycardia, Lumbar hyperlordosis, Exaggerated startle response, Opisthotonus, Hypertension, Anemia OMIM:184850
Melkersson-Rosenthal Syndrome
Macroglossia, Oligosacchariduria, Lymphadenopathy, Furrowed tongue ORPHA:2483
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... ORPHA:99429
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Cardiomegaly, Congestive heart failure... ORPHA:363705
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... ORPHA:244242
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Glucagonoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Elev... ORPHA:97280
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Dystonia, Splenomegaly, Abnormal pulmonary inters... OMIM:617050
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Left ventricular outflow tract obstructi... ORPHA:308552
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Xerostomia... ORPHA:449432
Listeriosis
Brain abscess, Unusual skin infection, Liver abscess, Abscess, Jaundice, Peritonitis, Abnormal ce... ORPHA:533
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Sacrococcygeal pilonidal abnormality, Mic... ORPHA:468631
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, High, narrow... ORPHA:228308
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... ORPHA:2088
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Failure to thrive in infancy, Anemia, Camptodactyly ORPHA:261323
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Abnormality of th... ORPHA:567
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Gaucher Disease
Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomega... ORPHA:355
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Right ventricular failure, Cardiome... ORPHA:1329
Kawasaki Disease
Pericarditis, Proteinuria, Myocarditis, Congestive heart failure, Vasculitis, Jaundice, Hepatitis... ORPHA:2331
Noonan Syndrome 4
Thrombocytopenia, Large for gestational age OMIM:610733
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Plague
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Enlarged mese... ORPHA:707
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, High, narrow palate, Cryptorchidism, Aplasia/Hypoplasia of the s... ORPHA:2879
Hyperekplexia 2
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Pyloric stenosis, Midgut malrotation, Cryptorchidism, Cleft palate, Supernu... OMIM:263750
Lathosterolosis
Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Adams-Oliver Syndrome
Leukopenia, Failure to thrive, Thrombocytopenia ORPHA:974
Zimmermann-Laband Syndrome 1
Hepatomegaly, Splenomegaly, Long penis, Nephrolithiasis, Cardiomyopathy, High palate, Gastroesoph... OMIM:135500
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Pancreatic adenocarcin... ORPHA:99889
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Intestinal malrotation, Pulmonary artery stenosis, Bili... OMIM:600001
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Urinary incontinence, Kyphosis, Sinus bradycardia, Gastroesophageal... OMIM:619482
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Dystonia, Scoliosis, Sinus bradycardia OMIM:618397
Illum Syndrome
Bradycardia OMIM:208155
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... OMIM:243910
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Postinfectious Vasculitis
Viral hepatitis, Persistent human papillomavirus infection, Increased circulating IgA level, Seve... ORPHA:48435
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Pylo... OMIM:615577
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Rectal prolapse, Long penis, La... ORPHA:508
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... ORPHA:247806
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Renal insufficiency, Uri... ORPHA:322
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Vertebral segmentation defect, Hepatoblastoma, Exaggerated me... OMIM:312870
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Pyloric stenosis, Cleft palate, Choreoathetosis, Gastroesophageal r... ORPHA:261197
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Renal hypoplasia, Cleft palate,... OMIM:219000
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Micropenis, Hepatomegaly, Hypospadias, Elevated circula... OMIM:243800
Glycogen Storage Disease Ic
Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia OMIM:232240
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... ORPHA:2237
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... ORPHA:90324
Plasminogen Deficiency, Type I
Nephritis, Recurrent upper respiratory tract infections, Duodenal ulcer, Nephrolithiasis OMIM:217090
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Cog8-Cdg
Elevated hepatic transaminase, Protein-losing enteropathy ORPHA:95428
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Gingival fibromatosis, N... ORPHA:2591
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flex... OMIM:612394
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Short neck, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency an... ORPHA:261584
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Steatorrhea, Hepatic fibrosis, Shawl scrotum, Hepatic steatosi... OMIM:616263
Atelis Syndrome 2
Thrombocytopenia, Hyperinsulinemia, Anemia OMIM:620185
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Overweight, Obesity, Hyperbilirubinemia, Decreased body weight, Failure to thrive OMIM:619475
Jacobsen Syndrome
Recurrent respiratory infections, Hypospadias, Short neck, Pyloric stenosis, Cryptorchidism, Clit... OMIM:147791
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Pulmonary fibrosis OMIM:612852
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy... OMIM:608594
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Follicular hyperplasia, Raynaud phenomenon, Paratracheal lympha... OMIM:615934
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Abnormal cardiovascular system physiology, Polycys... ORPHA:79086
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Sacral dimple, Hydroureter, Duodenal ulcer, Intestinal malrotat... OMIM:135900
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus ORPHA:2176
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Narrow palate, Telang... ORPHA:109
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph... OMIM:188400
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal s... ORPHA:3109
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cl... ORPHA:83617
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Kyp... ORPHA:394
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe... ORPHA:116
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Tremor, Rectal prolapse, Abnormal form ... ORPHA:904
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Unconjugated hyperbilirubinemia OMIM:620186
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Recurr... OMIM:612132
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... OMIM:269700
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Multicystic kidney dysplasia, R... OMIM:107480
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, High palate, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulm... OMIM:614437
Pmm2-Cdg
Multiple joint contractures, Lipodystrophy, Reduced thyroxin-binding globulin, Abnormal subcutane... ORPHA:79318
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... OMIM:146255
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227646
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Kn... OMIM:210710
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Abnormal lung lobation, Cleft palate, Adrenal gland ... OMIM:236680
Opitz-Kaveggia Syndrome
Anal stenosis, Lumbar hyperlordosis, Hypospadias, Intestinal malrotation, Sacral dimple, Short ne... OMIM:305450
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N... OMIM:232200
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Spondyloocular Syndrome
Unilateral cryptorchidism, Vertebral compression fracture, Duodenal ulcer, Platyspondyly OMIM:605822
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Niemann-Pick Disease Type C
Limb dystonia, Hepatomegaly, Axial dystonia, Dystonia, Fetal ascites, Bone-marrow foam cells, Tre... ORPHA:646
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Short neck, Abnormal lung lobation, Abnormal form of the vertebral bodies, G... ORPHA:818
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Anemia, Increased cir... ORPHA:77261
Blau Syndrome
Pericarditis, Splenomegaly, Nephropathy, Xerostomia, Stage 5 chronic kidney disease, Large vessel... ORPHA:90340
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Calcium nephrolithiasis, Bronchitis, Right ventricular failure, Increased pulmonary... ORPHA:60025
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss ORPHA:36426
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho... ORPHA:293173
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart ... ORPHA:565612
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Dystonia, Congestive heart failure, Pyloric stenosis, Pneu... ORPHA:90349
Toxic Epidermal Necrolysis
Thrombocytopenia, Weight loss, Anemia, Neutropenia ORPHA:537
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Duodenal atresia OMIM:618846
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Acute Liver Failure
Thrombocytopenia, Hypoglycemia, Hyperammonemia ORPHA:90062
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Absence of subcutaneous fat, Lympho... OMIM:620005
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Congestive hear... ORPHA:3342
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Aplasia of the epiglottis, Horseshoe kidney, Vagina... OMIM:617088
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Tremor, Splenomegaly, Pulmonary artery stenosis, ... ORPHA:667
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response, Hydronephrosis OMIM:620327
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Vertebral clefting, Cleft palate, Gastroesophageal reflux, Thoracic ... OMIM:301043
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Kyphosis, Vacuolated lymp... OMIM:208400
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Renal insufficiency, Urinary incontinence, Tremor, Myoc... ORPHA:3385
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... OMIM:175100
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Limb joint contracture, Splenomegaly, Flexion contracture, Truncal obesity, Thrombocytopenia OMIM:301072
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Gastroesophageal reflux OMIM:620114
Camurati-Engelmann Disease
Hepatomegaly, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral col... ORPHA:1328
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Precocious puberty, Cryptorchidism, Abnormality of the an... ORPHA:438213
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Megacystis, Microcolon OMIM:619362
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia ORPHA:647
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus hernia, Cryptorchid... OMIM:601776
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Osteogenesis Imperfecta, Type X
Thoracic scoliosis, Pyloric stenosis, Recurrent pneumonia, Nephrolithiasis, Platyspondyly, Scolio... OMIM:613848
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... ORPHA:97214
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis OMIM:231005
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Pyloric stenos... ORPHA:2461
Ulnar-Mammary Syndrome
Anal stenosis, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Pyloric... OMIM:181450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Leukocytosis, Flexion contracture, Abdominal obesity OMIM:619321
Menke-Hennekam Syndrome 2
Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... OMIM:619472
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, High palate, Truncal titubation OMIM:618056
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colitis, Fused cer... OMIM:617137
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Cherubism
Marcus Gunn pupil, Narrow palate, Submandibular lymph node enlargement OMIM:118400
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi... ORPHA:3337
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Kyphoscoliosis, Bilateral cryptorchidism, Pyloric ... OMIM:617402
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... ORPHA:79403
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Sacral dimple, Hypospadias, Cleft soft palate, Decreased response to growth... ORPHA:268261
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Intraventricular... ORPHA:420741
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ... ORPHA:64
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of p... ORPHA:79078
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Kyphosis, High palate, Dystonia, Impaired oropharyngeal swallow res... ORPHA:521426
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Iniencephaly
Hyperlordosis, Absent vertebra, Anal atresia, Duodenal atresia ORPHA:63259
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Knobloch Syndrome
Vesicoureteral reflux, Pyloric stenosis, Lymphangioma, Bifid ureter ORPHA:1571
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft palate, Bilateral breast hypoplasia, Breast aplasia, Hypo... ORPHA:69085
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Exaggerated startle response, High palate, Dysphagia OMIM:617527
Restrictive Dermopathy
Ureteral duplication, Thoracic kyphoscoliosis, Hypospadias, Aplasia/Hypoplastia of the eccrine sw... ORPHA:1662
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Cryptorchidi... OMIM:619522
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial hypertrophy, Macroglossia,... ORPHA:96191
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, High palate, Dystonia ORPHA:438216
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus ORPHA:1521
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Exaggerated startle response, Scoliosis OMIM:609541
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... ORPHA:284339
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Umbilical ... ORPHA:84
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
Aicardi-Goutières Syndrome
Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Neonatal alloimmune thrombocytopenia... ORPHA:51
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis OMIM:620232
Costello Syndrome
Renal insufficiency, Short neck, Pyloric stenosis, Pneumothorax, Macroglossia, High palate, Arrhy... OMIM:218040
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Gastroesophageal reflux OMIM:615574
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Short neck, Malrotation of colon, Pyloric stenosis, Cryptorchi... OMIM:113620
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron... ORPHA:158684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Spinal rigidity, Dilated cardiomyopathy, Scoliosis, Pulmonic stenosis OMIM:253800
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Hypospadias, High, narrow palate, Cryptorc... ORPHA:286
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Scoliosis ORPHA:320406
Roberts Syndrome
Progressive flexion contractures, Wrist flexion contracture, Thrombocytopenia, Knee flexion contr... ORPHA:3103
Loeys-Dietz Syndrome
Cardiac arrest, High palate, Scoliosis, Uterine rupture, Bifid uvula ORPHA:60030
Stiff Person Spectrum Disorder
Exaggerated startle response, Lumbar hyperlordosis ORPHA:3198
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Anomalous origin of one pulmonary artery from... ORPHA:3384
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Granulomatosis, Meningitis, Pancreatitis ORPHA:900
Malt Lymphoma
Recurrent respiratory infections, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Scoliosis, Aplasia of the uterus ORPHA:457284
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Vesicoureteral reflux, Webbed p... ORPHA:261537
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Narrow pa... OMIM:276820
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, V... ORPHA:2152
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Pallister-Killian Syndrome
Small scrotum, Short neck, Renal cyst, Anteriorly placed anus, Bifid uvula, Hypospadias, Cryptorc... OMIM:601803
Neurofibromatosis Type 1
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... ORPHA:636
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Vesicoureteral reflux, Webbed p... ORPHA:261552
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Osteogenesis Imperfecta
Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Flexion contractur... ORPHA:666
Neu-Laxova Syndrome 1
Short neck, Bifid uterus, Cryptorchidism, Cleft palate, Pulmonary hypoplasia OMIM:256520
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Pauci-Immune Glomerulonephritis
Granulomatosis, Pancreatitis ORPHA:93126
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Mowat-Wilson Syndrome
Bifid scrotum, Aganglionic megacolon, Hypospadias, Supernumerary nipple, Pulmonary artery sling, ... OMIM:235730
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Microphthalmia, Syndromic 1
Hydroureter, Aganglionic megacolon, Hypospadias, Lumbar hyperlordosis, Kyphoscoliosis, High, narr... OMIM:309800
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Chikungunya
Raynaud phenomenon, Cervical lymphadenopathy, Epistaxis, Lymphadenopathy ORPHA:324625
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy OMIM:163950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia ORPHA:642
Norrie Disease
Cryptorchidism, Scoliosis, Uterine rupture ORPHA:649
Dysosteosclerosis
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly ORPHA:1782

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Pancreas - MPATH pathological process term fibrosis Slc29a3em1(IMPC)Mbp HOM Early adult
Spleen - MPATH pathological process term atrophy Slc29a3em1(IMPC)Mbp HOM Early adult
Lymph node - MPATH pathological process term hyperplasia Slc29a3em1(IMPC)Mbp HOM Early adult
Bone marrow - MPATH pathological process term hyperplasia Slc29a3em1(IMPC)Mbp HOM Early adult
Spleen - MPATH pathological process term hyperplasia Slc29a3em1(IMPC)Mbp HOM Early adult
Liver - MPATH pathological process term hyperplasia Slc29a3em1(IMPC)Mbp HOM Early adult
Small intestine - MPATH pathological process term hyperplasia Slc29a3em1(IMPC)Mbp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc29a3.

No publications found that use IMPC mice or data for Slc29a3.

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
Slc29a3tm48176(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc29a3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Slc29a3em1(IMPC)Wtsi Point Mutation Mice
Slc29a3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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