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Gene: Slc29a3 MGI:1918529

Gene Summary

Name:

solute carrier family 29 (nucleoside transporters), member 3

Synonyms:

4933435C21Rik, Ent3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating LDL cholesterol level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.45×10^-14
decreased circulating total protein level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	3.70×10^-20
abnormal skin morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	5.40×10^-06
small uterus	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
small thymus	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased lean body mass	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	3.25×10^-09
decreased total body fat amount	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	4.16×10^-07
small seminal vesicle	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged ileum	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal thymus morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged duodenum	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating chloride level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.70×10^-12
prolonged RR interval	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	1.03×10^-20
abnormal brain morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased spleen weight	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	3.30×10^-05
decreased mean corpuscular hemoglobin concentration	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.04×10^-12
abnormal spleen morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating iron level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.02×10^-09
increased liver weight	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	3.12×10^-08
increased circulating aspartate transaminase level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	4.80×10^-41
increased circulating bilirubin level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.25×10^-29
decreased heart rate	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	2.21×10^-16
enlarged spleen	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating amylase level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.84×10^-17
increased leukocyte cell number	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	6.73×10^-12
increased startle reflex	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	1.29×10^-05
increased circulating sodium level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.62×10^-05
enlarged liver	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased hematocrit	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
abnormal stomach morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged cecum	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
distended jejunum	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	3.22×10^-43
thrombocytopenia	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
increased red blood cell distribution width	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	2.51×10^-28
decreased circulating triglyceride level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.72×10^-05
abnormal lung morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean platelet volume	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
abnormal caudal vertebrae morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	1.19×10^-06
decreased hemoglobin content	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
abnormal uterus morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased erythrocyte cell number	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.38×10^-33
abnormal colon morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating cholesterol level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.26×10^-41
decreased circulating serum albumin level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	5.75×10^-16
decreased circulating glucose level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	2.00×10^-08
abnormal cecum morphology	Slc29a3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alanine transaminase level	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	1.74×10^-17
decreased mean corpuscular hemoglobin	Slc29a3^{em1(IMPC)Wtsi}	HOM	Early adult	8.41×10^-45

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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

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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.

Human diseases associated with Slc29a3 (3 diseases)
Human diseases predicted to be associated with Slc29a3 (1868 diseases)

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

Disease	Matching phenotypes	Source
H Syndrome	Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physiology, Azoospermia, Recurre...	ORPHA:168569
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Dysosteosclerosis	Platyspondyly, Hypoplastic vertebral bodies, Irregular vertebral endplates	ORPHA:1782

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

Disease	Matching phenotypes	Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections...	OMIM:615285
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ...	OMIM:613495
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase...	OMIM:267700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ...	OMIM:242870
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 38 With Basal Ganglia Calcification	BCGitis, Lymphadenopathy, Severe viral infection, Recurrent viral infections, Recurrent mycobacte...	OMIM:616126
Myelolymphatic Insufficiency	Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr...	OMIM:310350
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega...	OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 84	Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, B-cell lymphoma, Recur...	OMIM:619437
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp...	OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi...	OMIM:603553
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Severe varicella zoster infection, Hodgkin lymphoma, Recurrent sinusitis, Splenomegaly, Chronic a...	OMIM:300853
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent bacterial infections, Partial ab...	OMIM:240500
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia	ORPHA:529799
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p...	OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe...	OMIM:613501
Immunodeficiency 115 With Autoinflammation	Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp...	OMIM:620632
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, S...	OMIM:612840
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g...	OMIM:608184
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ...	OMIM:613493
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell...	OMIM:620449
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop...	OMIM:616022
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Immunodeficiency 27A	Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Thrombocyto...	OMIM:209950
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia	OMIM:207731
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Recurrent respiratory...	OMIM:614470
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Immunodeficiency 32B	Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbum...	OMIM:226990
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Sepsis, Hemophagocytosis, Lymphadenopathy, Pancy...	OMIM:615122
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis	OMIM:226300
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,...	OMIM:615513
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Failure to thrive, Severe B...	OMIM:603554
Leishmaniasis	Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,...	ORPHA:507
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve...	OMIM:241600
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem...	OMIM:616873
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop...	ORPHA:90362
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymph node hyp...	ORPHA:276
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis, Neoplasm of the skin	OMIM:142630
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:300908
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R...	OMIM:619220
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo...	OMIM:607616
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive	OMIM:615863
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia	OMIM:619013
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Lymphoproliferative Syndrome 3	Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s...	OMIM:618261
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C...	OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula...	OMIM:603552
Dengue Fever	Thrombocytopenia, Hypoproteinemia, Leukopenia	ORPHA:99828
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Cholestasis, Progressive Familial Intrahepatic, 12	Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbiliru...	OMIM:620010
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop...	ORPHA:2070
Diarrhea 13	Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia	OMIM:620357
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce...	OMIM:224120
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,...	OMIM:616005
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst...	OMIM:616000
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure to thri...	OMIM:613845
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr...	OMIM:616452
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr...	OMIM:612692
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp...	OMIM:246700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati...	ORPHA:494444
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Increased serum bile acid concentration, Iron deficiency a...	OMIM:616278
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir...	ORPHA:169079
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypermethio...	OMIM:613752
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ...	ORPHA:158061
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Immunodeficiency 69	BCGitis, Anemia, Hemophagocytosis, Pancytopenia, BCGosis, Leukocytosis, Hepatosplenomegaly, Splen...	OMIM:618963
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Whim Syndrome 1	Decreased circulating antibody level, Verrucae, Decreased circulating IgG level, Recurrent upper ...	OMIM:193670
Harderoporphyria	Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen...	OMIM:618892
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli...	ORPHA:86816
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou...	OMIM:212050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr...	OMIM:614372
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Persistent EBV viremia, L...	OMIM:619126
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con...	ORPHA:94093
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Hepatomegaly, Recurrent ot...	OMIM:612783
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age	OMIM:256300
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ...	OMIM:620282
Johanson-Blizzard Syndrome	Failure to thrive, Diabetes mellitus, Hypoproteinemia, Anemia	ORPHA:2315
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatosplenomegaly,...	ORPHA:911
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycemia, Thrombocytopenia, Hypoglycemia, Hyperglycinemia	OMIM:620423
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Camptodactyly, Failure to thrive, Thrombocytopenia, Hypoalbuminemia, Elevated circulating...	OMIM:608104
Papular Xanthoma	Histiocytosis	ORPHA:158008
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Recurrent infections, I...	OMIM:618982
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, Lymp...	ORPHA:331206
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly, Myelodysplasia	OMIM:162830
Edinburgh Malformation Syndrome	Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Adult Idiopathic Neutropenia	Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia...	ORPHA:2688
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest...	OMIM:615558
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia	OMIM:614492
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti...	OMIM:235700
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Hyperbilirub...	ORPHA:1667
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Immunodeficiency 48	Recurrent candida infections, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglu...	OMIM:269840
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,...	ORPHA:158048
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
X-Linked Sideroblastic Anemia	Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absenc...	OMIM:613496
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot...	OMIM:232800
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Failur...	OMIM:615895
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ...	ORPHA:98813
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti...	OMIM:266200
Hepatoportal Sclerosis	Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl...	ORPHA:64743
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili...	ORPHA:91547
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit...	OMIM:615751
Immunodeficiency 61	Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre...	OMIM:300310
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo...	OMIM:301078
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Decrea...	ORPHA:247585
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen...	OMIM:615517
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:233710
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio...	OMIM:614699
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto...	ORPHA:167
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Recurrent bact...	OMIM:614868
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased ci...	OMIM:300635
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:233690
Spherocytosis, Type 1	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia	OMIM:610738
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinas...	OMIM:614727
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emph...	OMIM:613490
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis	ORPHA:83601
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni...	ORPHA:292
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections, Recurrent ur...	OMIM:209920
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Cellulitis, Neutropenia	ORPHA:238459
Caspase 8 Deficiency	Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ...	OMIM:607271
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal...	ORPHA:3008
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia, Lymphopenia	OMIM:617575
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Bernard-Soulier Syndrome	Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag...	OMIM:231200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con...	ORPHA:26793
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Glycogen Storage Disease Iv	Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Esophageal varix, Cardiomyopathy, Ascites, P...	OMIM:232500
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypocholesterolemia	OMIM:608776
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ...	ORPHA:540
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, ...	ORPHA:96180
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Recu...	OMIM:614172
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	BCGitis, Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia...	OMIM:602450
Myh9-Related Disease	Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc...	ORPHA:182050
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, T l...	ORPHA:572
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ...	ORPHA:444463
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,...	ORPHA:2298
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux	ORPHA:99976
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Myeloproliferative...	ORPHA:100924
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase...	OMIM:620603
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas...	OMIM:619824
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Myelody...	ORPHA:846
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra...	ORPHA:75564
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ...	ORPHA:247353
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive, Thrombocytopenia, Umbi...	OMIM:169400
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Hypo...	OMIM:610600
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Hemochromatosis, Type 4	Anemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Elevated transferrin ...	OMIM:606069
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly	ORPHA:66661
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c...	OMIM:620481
Beta-Thalassemia	Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic...	ORPHA:848
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Wild Type Attr Amyloidosis	Congestive heart failure, Abnormal pulmonary interstitial morphology, Hepatomegaly, Pulmonary ede...	ORPHA:330001
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Failure to thrive, Hypoalbuminemia	OMIM:615508
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Alg8-Cdg	Anemia, Camptodactyly, Hyponatremia, Failure to thrive, Thrombocytopenia, Small for gestational a...	ORPHA:79325
Glucose-Galactose Malabsorption	Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss	ORPHA:35710
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl...	ORPHA:231226
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Leukocytosis, Weight loss, Hypoalbuminemia	ORPHA:67
Hemochromatosis, Type 2B	Anemia, Increased circulating iron concentration, Splenomegaly, Elevated transferrin saturation, ...	OMIM:613313
Activated Pi3K-Delta Syndrome	Severe cytomegalovirus infection, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurren...	ORPHA:397596
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo...	OMIM:133180
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:269920
Transaldolase Deficiency	Anemia, Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Th...	ORPHA:101028
Trichohepatoenteric Syndrome 1	Abnormality of iron homeostasis, Hypergalactosemia, Increased mean platelet volume, Failure to th...	OMIM:222470
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent Staphylococcus aureus infections, T lymphocytopenia, Opportunistic infection, Aplasia o...	ORPHA:83471
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Persistent CM...	OMIM:618495
Chylomicron Retention Disease	Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea	ORPHA:71
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Failure to thrive	OMIM:304800
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Elevated circulating alpha...	OMIM:251880
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero...	OMIM:232700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Verrucae, Decreased circu...	ORPHA:275
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia	OMIM:300299
Lipodystrophy, Congenital Generalized, Type 4	Spinal rigidity, Hepatomegaly, Prolonged QT interval, Elevated circulating hepatic transaminase c...	OMIM:613327
Hereditary Elliptocytosis	Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper...	ORPHA:288
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo...	OMIM:618858
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Fetal Cytomegalovirus Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:294
Trimethylaminuria	Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S...	OMIM:615234
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:613179
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Ficolin 3 Deficiency	Verrucae, Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infection...	OMIM:613860
Hemochromatosis, Type 3	Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I...	OMIM:604250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Thrombocytopenia, Anemia	ORPHA:2123
Glycogen Storage Disease Xii	Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity, Nor...	OMIM:611881
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c...	OMIM:243700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Juvenile Polyposis Syndrome	Hypoalbuminemia, Failure to thrive, Anemia, Hypokalemia	OMIM:174900
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive	ORPHA:79320
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Splenomegaly, Inguinal hernia	OMIM:235255
Mirage Syndrome	Hyperkalemia, Anemia, Decreased body weight, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, ...	OMIM:617053
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur...	ORPHA:331235
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Decreased body weight, Atypical scarring o...	ORPHA:89842
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia, Flexion contracture	OMIM:608093
Aceruloplasminemia	Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased circulating i...	OMIM:604290
Combined Immunodeficiency Due To Crac Channel Dysfunction	Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Thrombocytopenia, Splenomegaly...	ORPHA:169090
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu...	OMIM:612526
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Failure to thrive, H...	OMIM:214700
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent ear infections, Hemangioma, Acute lymphoblasti...	ORPHA:486
Hereditary Spherocytosis	Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb...	ORPHA:822
Immunodeficiency 82 With Systemic Inflammation	Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo...	OMIM:619381
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ...	OMIM:618838
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant...	OMIM:606367
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Elevated circulating alanine aminotransferas...	OMIM:619048
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Thrombocytopenia, Hyperglycemia, Small ...	ORPHA:391673
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556037
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop...	OMIM:300755
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Neonatal hyperbilirubinemia	ORPHA:3363
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Intestinal pseudo-obstruction, Bradycardia, Atrial fibrillat...	OMIM:616201
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge...	OMIM:606176
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556030
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:231111
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:306400
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Abnormal cardiovascular system physiology, Pleural effusion, Abnor...	ORPHA:50251
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly	ORPHA:90037
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati...	OMIM:616834
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly	ORPHA:1655
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Bradycardia, Cardiac arrest, Hypertrophic cardiomyopathy, Generalized dystonia	OMIM:618235
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hypoglycemia, Hyponatremia, Failure to thriv...	ORPHA:199299
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Dystonia, Splenomegaly, Dysphagia, Recurrent respiratory infections	ORPHA:77260
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Increased body weight	ORPHA:890
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia, Failure to thrive	OMIM:143860
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Anemia, Weight loss	ORPHA:69077
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi...	ORPHA:277
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Umbilical hernia	OMIM:620475
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol...	OMIM:617718
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Gastroesophageal reflux, Bradycardia, Partial development of the penil...	OMIM:608800
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia	ORPHA:27
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia	OMIM:617173
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Recurrent otitis media, Recurrent l...	OMIM:620430
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Steatorrhea, Failure to thrive, Splenomegaly	OMIM:235555
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thrive, Conju...	ORPHA:79303
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:177735
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Nephrogenic Diabetes Insipidus	Hypernatremia, Failure to thrive	ORPHA:223
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, B lymphocytopenia, Recurrent pne...	OMIM:150550
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb...	ORPHA:90038
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Mucopolysaccharidosis-Plus Syndrome	Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Flexion contracture, Hypoalbuminemia, Neutrop...	OMIM:617303
Transcobalamin Deficiency	Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody level, Decrease...	ORPHA:859
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate...	ORPHA:157798
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased glomerul...	ORPHA:85450
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Hypotriglyceridemia, Hyperbilirubin...	ORPHA:14
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated hyperbiliru...	OMIM:618278
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG2 level, Recurrent pne...	OMIM:102700
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform...	OMIM:243150
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol level, Hypoglycemia	OMIM:614736
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula...	ORPHA:231222
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Mi...	OMIM:618815
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega...	ORPHA:37042
Multiple Myeloma	Anemia, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, Elevated circulating creatini...	ORPHA:29073
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level	OMIM:203400
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt...	OMIM:251110
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni...	OMIM:300636
Alg12-Cdg	Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly, Hyponatremia, Failure to th...	ORPHA:79324
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperpl...	ORPHA:60026
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis	OMIM:613779
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Renal Hypoplasia, Bilateral	Hyperkalemia, Anemia, Hyponatremia, Failure to thrive, Glycosuria, Small for gestational age	ORPHA:97362
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Webb-Dattani Syndrome	Hypernatremia, Obesity	OMIM:615926
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Diabetes Mellitus, Transient Neonatal, 3	Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, ...	OMIM:610582
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Inguinal hernia, Failure to thr...	OMIM:614857
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Sandhoff Disease	Congestive heart failure, Hepatomegaly, Kyphosis, Splenomegaly, Recurrent respiratory infections	ORPHA:796
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni...	OMIM:618986
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm...	ORPHA:100024
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac...	OMIM:601495
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Bacterial Toxic-Shock Syndrome	Fasciitis, Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kin...	ORPHA:36234
Encephalopathy Due To Prosaposin Deficiency	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:139406
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Coenzyme Q10 Deficiency, Primary, 7	Scoliosis, Dysphagia, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Specific Granule Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil ...	OMIM:617475
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnor...	ORPHA:79096
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia	ORPHA:446
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Fanconi Anemia, Complementation Group G	Anemia, Leukemia, Abnormality of chromosome stability, Thrombocytopenia, Myelodysplasia, Neutropenia	OMIM:614082
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:95409
Syndromic Diarrhea	Abnormality of iron homeostasis, Inguinal hernia, Hypoplasia of the thymus, Increased mean platel...	ORPHA:84064
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticuloc...	OMIM:557000
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Lymphadenitis, Coccidioid...	ORPHA:319552
Mpi-Cdg	Hypoalbuminemia, Failure to thrive, Hyperinsulinemic hypoglycemia	ORPHA:79319
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hyperammonemia, Failure to thrive, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbum...	OMIM:617093
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia	ORPHA:95715
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Chromosome breakage, Recurrent viral infections, Splenomegaly, Rec...	OMIM:609981
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Steatorrhea, Failure to thrive, Flexion contractur...	OMIM:212065
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T...	OMIM:300835
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine...	OMIM:614300
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Immunodeficiency 16	Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia	OMIM:615593
Congenital Erythropoietic Porphyria	Scarring, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Scarring...	ORPHA:79277
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Hypoglycemia	OMIM:240200
Shigellosis	Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,...	ORPHA:810
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati...	ORPHA:300298
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Bradycardia, Functional abnormality of ...	ORPHA:90051
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Scarring	ORPHA:79473
Tangier Disease	Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia	ORPHA:31150
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Ovarian neoplasm, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Testicular neo...	ORPHA:83469
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Anisocytosis, Flexion contracture, Camptodactyly	OMIM:604273
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Congenital Isolated Acth Deficiency	Hyponatremia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures	ORPHA:199296
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele...	OMIM:301110
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ...	ORPHA:171876
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Cog4-Cdg	Failure to thrive in infancy, Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Panniculitis, Failure to thrive, Thrombocytopenia, Splenomegaly, Li...	OMIM:617591
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:264350
Propionic Acidemia	Anemia, Pancytopenia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Hypoglycemia, Hypergly...	OMIM:606054
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos...	OMIM:259720
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, BCGosis, Hypoplasia of the thymus, Splenomegaly, Recurren...	OMIM:616622
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Elbow flexi...	OMIM:604416
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H...	ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Steatorrhea, Failure to thrive, Hyperinsulinemic hypoglycemia	OMIM:602579
Bronchogenic Cyst	Bronchogenic cyst, Pneumonia, Atelectasis, Abnormal peritoneum morphology, Abnormal lumbar spine ...	ORPHA:2357
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:608885
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Liver Disease, Severe Congenital	Anemia, Inguinal hernia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hypera...	OMIM:619991
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia	OMIM:306000
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Abnormal stomach mo...	ORPHA:281090
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Hernia, Hiatus hernia	ORPHA:101009
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia	OMIM:616299
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Bone-marrow f...	OMIM:278000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Flexion contracture	ORPHA:367
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infections, Increased circulatin...	OMIM:620565
Forsythe-Wakeling Syndrome	Decreased body weight, Thrombocytopenia	OMIM:613606
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met...	OMIM:618156
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia	OMIM:617182
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,...	OMIM:620211
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Lymph...	ORPHA:424019
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration	ORPHA:90060
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612926
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc...	ORPHA:319487
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ...	OMIM:618839
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Recu...	OMIM:619281
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:79301
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ...	ORPHA:231214
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex...	ORPHA:682
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Dysphagia, Bradycardia	OMIM:620265
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc...	ORPHA:97290
Potocki-Lupski Syndrome	Failure to thrive, Hypocholesterolemia, Small for gestational age	OMIM:610883
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:613090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Al Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbu...	ORPHA:85443
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Severe Epstein Barr virus infection, Hemophagocytosis, Pancytopenia, G...	OMIM:619858
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Leukopenia, Hypoglyc...	OMIM:251000
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Whipple Disease	Anemia, Cachexia, Hyponatremia, Splenomegaly, Insulin resistance	ORPHA:3452
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612924
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Increas...	OMIM:618398
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypoglycemia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin...	OMIM:617872
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, ...	ORPHA:85138
Axial Mesodermal Dysplasia Spectrum	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ...	ORPHA:1834
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Recurrent lower respiratory tract infections, BC...	OMIM:619644
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612925
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at...	OMIM:617784
Gracile Syndrome	Increased circulating iron concentration, Increased circulating ferritin concentration, Increased...	OMIM:603358
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis, Recurrent respiratory infections	OMIM:618042
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Aicardi-Goutieres Syndrome 9	Anemia, Failure to thrive, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Hemolytic anemia	OMIM:619487
Overlap Myositis	Abnormal circulating lipid concentration, Abnormality of connective tissue, Elevated circulating ...	ORPHA:206572
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Failure to thrive, Hypocholesterolemia, Steator...	OMIM:266510
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo...	ORPHA:99901
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp...	OMIM:620210
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Type II diabete...	OMIM:620121
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Hyponatremia, Severe B lymphocytopenia, Decreased circulating cor...	ORPHA:293978
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Splenic rupture, Volvul...	ORPHA:335
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory t...	OMIM:616100
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Immunodeficiency 27B	Recurrent mycobacterium avium complex infections, Generalized lymphadenopathy, Recurrent mycobact...	OMIM:615978
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Camptodactyly, Thrombocytopenia, Failure to thrive in infancy	OMIM:611209
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Lymphoma, Increased circulating IgM level, S...	ORPHA:37748
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly...	ORPHA:443811
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Thrombocytopenia, Conjugated hyperbilirubinemia, Arthrogryposis multiplex cong...	OMIM:208085
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Anemia, Vacuolated lymphocytes, Bon...	ORPHA:275761
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia, Weight loss, Recurrent cutaneous absce...	ORPHA:47
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Recurrent infections, Acute pancreatiti...	OMIM:618935
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:3240
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Anemia, Atrophic scars, Enamel hypoplasia, Failure to thrive, Hypoalbuminemia	ORPHA:79396
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
American Trypanosomiasis	Myocarditis, Congestive heart failure, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Card...	ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 2	Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:601847
Preeclampsia	Elevated circulating creatinine concentration, Type I diabetes mellitus, Thrombocytopenia, Small ...	ORPHA:275555
Takenouchi-Kosaki Syndrome	Camptodactyly, Increased mean platelet volume, Thrombocytopenia, Inguinal hernia	OMIM:616737
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Obesity, Decreased circulating cortisol level, Hypoglycemic seizures	OMIM:609734
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:95717
Pituitary Apoplexy	Hyponatremia, Hypoglycemia, Normochromic anemia, Increased circulating cortisol level	ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Failure to t...	OMIM:619046
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent otitis media, Pyoderma, Panhypogammaglobulinemia, Recurrent urinary tract infections, M...	OMIM:307200
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Fasting hypoglycemia, Hypouricemia, Hyperbi...	OMIM:227810
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Recurrent infections, Recurren...	OMIM:214500
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Cinca Syndrome	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenomegaly, ...	OMIM:607115
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Secondary Intestinal Lymphangiectasia	Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce...	ORPHA:90363
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Tafro Syndrome	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp...	ORPHA:457077
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Subcutaneous lipoma, Hypoalbuminemia, Refractory anemia	ORPHA:79076
Hereditary Coproporphyria	Atypical scarring of skin, Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Pseudomyxoma Peritonei	Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of...	ORPHA:26790
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hyp...	OMIM:619055
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:603909
Wilson Disease	Chondrocalcinosis, Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyper...	OMIM:277900
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Thrombocytopenia	ORPHA:67048
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Inguinal hernia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Failure to ...	OMIM:613658
Kimura Disease	Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy	ORPHA:482
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf...	ORPHA:436159
Lathosterolosis	Anisopoikilocytosis, Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirub...	OMIM:607330
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Hepatoce...	OMIM:619463
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hepatomegaly, Hypercalciuria, Scoliosis, Thoracic kyphosis, Cryptorch...	OMIM:618440
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Hepatomega...	OMIM:608233
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomeg...	ORPHA:545
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure	ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva...	OMIM:616828
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Normochromic anemia	ORPHA:95512
Hjv Or Hamp-Related Hemochromatosis	Elevated transferrin saturation, Diabetes mellitus, Increased circulating ferritin concentration,...	ORPHA:79230
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholecystitis, Cholangitis, Recurrent tonsillitis, Decreased specific pneumococcal antibody level...	ORPHA:183675
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic cardiomyopathy, ...	OMIM:616277
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Thrombocytopenia, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Hypoalbum...	OMIM:617156
Cholestasis, Progressive Familial Intrahepatic, 1	Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:211600
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma	ORPHA:86893
Graft Versus Host Disease	Dupuytren contracture, Hemophagocytosis, Hyperbilirubinemia, Failure to thrive, Hepatosplenomegal...	ORPHA:39812
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia, H...	ORPHA:505248
Immunodeficiency 12	Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com...	OMIM:615468
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Arr...	OMIM:602390
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Cholestasis, Progressive Familial Intrahepatic, 5	Hyperammonemia, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Conjugat...	OMIM:617049
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Dextrocardia	Abnormal lung lobation, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of the ureter, In...	ORPHA:1666
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Hypoglycemia, Large for gestational age	OMIM:619075
Legionnaires Disease	Hyponatremia, Cellulitis, Splenomegaly, Lymphopenia	ORPHA:549
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Weight loss	ORPHA:79242
Acitretin/Etretinate Embryopathy	Bradycardia, High palate, Hypoplasia of the thymus, Median cleft palate, Third degree atrioventri...	ORPHA:40366
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal pulmonary interstitial morphology, Tremor, Ca...	ORPHA:99745
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bra...	OMIM:212138
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv...	ORPHA:99827
Hemochromatosis, Neonatal	Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali...	OMIM:231100
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Recurrent bacterial ...	OMIM:603585
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Marburg Hemorrhagic Fever	Hypokalemia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Hyperamylasem...	ORPHA:99826
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral lung agenesis, Alveolar capillary dysplasia, Pelvic kidney, Pulm...	OMIM:601186
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Scoliosis, Anal atresia, Clitora...	OMIM:618419
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Neutropenia	OMIM:598500
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Intestinal hypoplasia, Pancreatic h...	OMIM:601346
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper...	OMIM:615160
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Polycythemia, Failure to thrive	OMIM:606812
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Corticosteroid-Binding Globulin Deficiency	Reduced circulating cortisol-binding globulin concentration, Decreased circulating cortisol level...	OMIM:611489
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pleural effusion, A...	ORPHA:60041
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Failure to thrive, Thrombocytopenia...	OMIM:251100
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocyt...	OMIM:610377
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Normochromic anemia	ORPHA:95513
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Pleural effus...	OMIM:617397
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Neonatal hyperbilirubinemia, Insulin resistance, Hypoglycemia, Truncal obesity...	ORPHA:73272
Immunodeficiency 46	Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Anemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic anemia, Cystathi...	OMIM:277380
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intestinal ps...	ORPHA:1333
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hypoglycemia, Failure to thrive, Hyperalaninemia	OMIM:618329
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem...	OMIM:274150
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Abnormality of the lymphatic syst...	ORPHA:1414
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Steatorrhea, Failure to thrive, Splenomegaly	OMIM:613812
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Failure to thrive, Thrombocytopenia, Recurrent cutaneous ...	ORPHA:229717
Mody	Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H...	ORPHA:552
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Abnormality of the vertebral column, Bico...	OMIM:601076
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Felty Syndrome	Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent pharyngitis, Recurrent infections, Recur...	ORPHA:47612
Sheehan Syndrome	Normochromic anemia, Hyponatremia, Obesity, Decreased circulating cortisol level, Hypoglycemia	ORPHA:91355
Immunodeficiency 32A	BCGitis, Lymphadenopathy, Recurrent infections, Lymphadenitis, Granuloma	OMIM:614893
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Bernard-Soulier Syndrome	Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce...	ORPHA:274
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Re...	OMIM:300972
Biliary Atresia, Extrahepatic	Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia	OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Conjugated hyperbilirubinemia	OMIM:243300
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Cystic Echinococcosis	Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Weight loss, Eosinophilia, Abscess	ORPHA:400
Galactokinase Deficiency	Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Failure to thrive, ...	ORPHA:79237
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp...	ORPHA:231154
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosple...	OMIM:612541
Kerion Celsi	Lymphadenopathy	ORPHA:499
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Splenomegaly, Conjugated hype...	ORPHA:186
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Bartter Syndrome Type 4	Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatr...	ORPHA:89938
Whim Syndrome	Sepsis, Neutropenia, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil mor...	ORPHA:51636
Feingold Syndrome	Annular pancreas, Esophageal atresia, Abnormal form of the vertebral bodies, Abnormality of the s...	ORPHA:1305
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Cardiomyopathy, Dysphagia, Hypogonadism, Arrhythmia	OMIM:609286
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:95716
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Glycogen Storage Disease Iii	Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Copper Deficiency, Familial Benign	Failure to thrive, Anemia, Decreased circulating copper concentration	OMIM:121270
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c	OMIM:616511
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises	ORPHA:168577
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Macroglossia, Goiter, Bradycardia	ORPHA:226313
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Familial Glucocorticoid Deficiency	Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Failure to thrive, Decre...	ORPHA:361
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Gastroesophageal reflux, Pleural effusion, Ascites, Pulmo...	ORPHA:2414
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Ollier Disease	Anemia, Hemangioma, Chondrosarcoma, Sarcoma, Lymphangioma, Neoplasm, Multiple enchondromatosis, V...	ORPHA:296
Adams-Oliver Syndrome 6	Esophageal varix, Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Splenomegaly, H...	OMIM:616589
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Impaired platelet aggregation, Hypochloremia, Increased serum pros...	OMIM:241200
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level, Hyponatremia, Failure to ...	ORPHA:90791
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Hypocalcemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:259700
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Xfe Progeroid Syndrome	Cachexia, Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Failure to thrive, Hy...	OMIM:610965
Caroli Syndrome	Liver abscess, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbi...	ORPHA:480520
Juvenile Polyposis Syndrome	Anemia, Hypoproteinemia, Rectocele, Failure to thrive, Multiple lipomas, Brain abscess	ORPHA:2929
Timothy Syndrome	Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Pulmonary arterial hypertension, Atrio...	OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ...	OMIM:619662
Microgastria-Limb Reduction Defect Syndrome	Abnormal lung lobation, Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal ...	ORPHA:2538
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, G...	ORPHA:809
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Pulmonary edema, Bradycardia, ST segment elevation, Ca...	OMIM:261740
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Sacral dimple, Anemia, Pelvic kidney, Vesi...	OMIM:603467
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections, Peritonitis	OMIM:615561
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Failure to thrive in in...	ORPHA:6
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia	OMIM:261750
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Budd-Chiari Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Cirrhosis, Gastrointestinal infarctions, Jau...	ORPHA:131
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal...	ORPHA:75233
Tetanus	Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norepinephrine le...	ORPHA:3299
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Scoliosis, High palate, Recurrent pneumonia, Hepatosplenomegaly, Short neck, Mit...	OMIM:619750
Coenzyme Q10 Deficiency, Primary, 5	Dystonia, Bradycardia, Left ventricular hypertrophy	OMIM:614654
Lujo Hemorrhagic Fever	Myocarditis, Shock, Elevated circulating hepatic transaminase concentration, Atelectasis, Bradyca...	ORPHA:319213
Congenital Toxoplasmosis	Failure to thrive in infancy, Thrombocytopenia, Anemia	ORPHA:858
Fanconi Anemia, Complementation Group B	Aplastic anemia, Abnormal lung lobation, Abnormal vertebral morphology, Esophageal atresia, Trach...	OMIM:300514
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Vertebral segmentation defect, Duodenal atresia	ORPHA:3004
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Bradycardia, High palate, Pulmonary arterial hypertension, Opisthotonus	OMIM:619272
Babesiosis	Jaundice, Hepatomegaly, Recurrent pharyngitis, Recurrent infections, Thrombocytopenia, Leukopenia...	ORPHA:108
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Failure to thrive	OMIM:300200
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Opisthotonus, Gastroesophageal reflux, Bradycardia	OMIM:619814
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Abnormality of the gastrointestinal tract, Atrial flutter, Lef...	ORPHA:439232
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c	OMIM:609812
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly, Aplas...	ORPHA:1046
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:619278
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Hypertension, Elevated circulating alanine aminotransfe...	OMIM:614034
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia	ORPHA:163979
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit...	OMIM:615710
Familial Mediterranean Fever	Intestinal obstruction, Ascites, Pericarditis, Nephrocalcinosis, Acute hepatic failure, Splenomeg...	ORPHA:342
Roifman Syndrome	Hepatomegaly, Biconvex vertebral bodies, Lymphadenopathy, Noncompaction cardiomyopathy, Recurrent...	OMIM:616651
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Failure to thrive, Thrombocytopenia, Leukopenia	OMIM:619151
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy	ORPHA:42642
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Vertebral segmentation defect, Kyphosis, Congenital pyloric atresia, Cryptorchidism	ORPHA:2617
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level	ORPHA:427
Intellectual Developmental Disorder, Autosomal Recessive 41	Recurrent pneumonia, Hepatomegaly, High palate, Splenomegaly	OMIM:615637
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Diabetes mellitus, Hemo...	ORPHA:544482
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration, Failure to thrive	OMIM:214950
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia	ORPHA:49827
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Anemia, Pancytopenia, Splenic infarction, Splenic ruptur...	ORPHA:77259
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
N Syndrome	Abnormality of chromosome stability, Leukemia, Neoplasm	OMIM:310465
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Cholestasis, Progressive Familial Intrahepatic, 6	Failure to thrive, Conjugated hyperbilirubinemia	OMIM:619484
Muckle-Wells Syndrome	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:602522
Leukocyte Adhesion Deficiency, Type I	Recurrent infections, Rectal abscess, Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent ...	OMIM:116920
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid concentration	OMIM:614886
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elbow flexion contracture, Elevated circulating long chain fatty acid concentration, Elevated cir...	OMIM:608836
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent infec...	OMIM:613489
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Jaundice, Panc...	ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 14	Elevated hepatic iron concentration, Thrombocytopenia, Anemia	OMIM:614946
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Hip contracture, Thrombocytopenia	ORPHA:464321
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Lymphadenopathy,...	ORPHA:100078
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo...	OMIM:154230
Roifman Syndrome	Biconvex vertebral bodies, Lymphadenopathy, Noncompaction cardiomyopathy, Recurrent pneumonia, He...	ORPHA:353298
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Platyspondyly, ...	OMIM:618958
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Enamel hypoplasia, Failure to t...	OMIM:614576
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
D-Glyceric Aciduria	Gastroesophageal reflux, Bradycardia, Opisthotonus, Micropenis, Aminoaciduria	OMIM:220120
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Dystonia, Splenomegaly, ...	OMIM:230650
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Hypoplasia of the small intest...	OMIM:200995
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hyperammonemia, Leuko...	ORPHA:470
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Congenital Syphilis	Anemia, Pancreatitis, Lymphadenopathy, Prolonged neonatal jaundice, Thrombocytopenia, Hepatosplen...	ORPHA:499009
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Glycosuria, Arthrogryposis multiplex congenita, Failure to thrive, Conjugated hyperbilirubinemia	OMIM:613404
Aceruloplasminemia	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin...	ORPHA:48818
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Sp...	ORPHA:2584
Porphyria Cutanea Tarda	Scarring, Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme concentration...	ORPHA:101330
Cholera	Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia	ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Arrhythmia, Ileus	ORPHA:163746
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Emphysema, R...	ORPHA:1572
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Fasting hypoglycemia, Hyperuricemia, Hyperalaninemia, Neonatal hyperbiliru...	ORPHA:348
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Alveolar capillary dyspla...	OMIM:265380
Tumor Predisposition Syndrome 4	Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma	OMIM:609265
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Fryns Syndrome	Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Ectopic anus, Vesicoureteral reflux,...	ORPHA:2059
Ataxia-Telangiectasia	Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, Neoplasm,...	ORPHA:100
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly...	OMIM:105200
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Abnormal lung morphology, Abnormality of the spleen, A...	ORPHA:33276
Nephroblastoma	Hematuria, Lymphadenopathy, Hypertension, Neoplasm of the lung, Neoplasm of the liver	ORPHA:654
Autoinflammatory Disease, Systemic, With Vasculitis	Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Leukocytos...	OMIM:620376
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Increased circulating IgA level,...	OMIM:260920
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol level, Hypoglycemia	ORPHA:90790
Fryns Syndrome	Aganglionic megacolon, Ureteral duplication, Esophageal atresia, Hypospadias, Meckel diverticulum...	OMIM:229850
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal vertebral morphology, Abnormality of the tonsils, Cardiomyopathy, Spinal c...	ORPHA:93476
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Ductal bile plugs, Ve...	OMIM:617394
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Mediastinal l...	ORPHA:91138
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Neoplasm of the skin, Abnormal lymp...	ORPHA:3162
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Camptodactyly, Increased mean platelet volume, Thrombocytopenia, Flexion contrac...	ORPHA:487796
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Elevated circulating C-reactive protein concentration, Increased proportion of CD4-...	OMIM:617099
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia	OMIM:249270
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Steatorrhea, Anemia, Acute myeloid leukemia, Macrocytic anemi...	ORPHA:811
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Reynolds Syndrome	Calcinosis, Steatorrhea, Hyperbilirubinemia, Splenomegaly, Lymphopenia	OMIM:613471
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Hepatic steatosis, Intestinal polyposis, Penile freckling	ORPHA:210548
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Camptodactyly	OMIM:619751
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Beaking of vertebral bodies, Hepatomegaly, Asymmetric septal hypertrophy, Ovoid t...	OMIM:252930
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Respiratory tr...	ORPHA:70587
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Castleman Disease	Anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Weight loss, Dec...	ORPHA:160
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Intention tremor, Dystonia, Bradycardia	OMIM:614407
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia, Failure to thr...	OMIM:222700
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport...	ORPHA:98850
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Ventricular escape rhythm, Arrhythmia,...	ORPHA:542306
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron...	ORPHA:98849
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Cinca Syndrome	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Abnormality of throm...	ORPHA:1451
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Polysplenia, Duodenal atresia	OMIM:619608
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Immunodeficiency 31C	Autoimmune hemolytic anemia, Protein-losing enteropathy, Impaired lymphocyte transformation with ...	OMIM:614162
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Fasting hypoglycemia, Increased body weight, Abnormal erythrocyte e...	ORPHA:264580
Spastic Paraplegia 29, Autosomal Dominant	Hiatus hernia, Neonatal hyperbilirubinemia	OMIM:609727
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hepatitis, Thr...	OMIM:304790
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Cardiac-Urogenital Syndrome	Enlarged kidney, Partial anomalous pulmonary venous return, Penoscrotal hypospadias, Accessory sp...	OMIM:618280
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C...	ORPHA:1830
Sialidosis Type 2	Hepatomegaly, Tremor, Ascites, Kyphosis, Splenomegaly, Nephropathy	ORPHA:87876
Neuroblastoma	Thrombocytopenia, Increased circulating ferritin concentration, Anemia, Weight loss	ORPHA:635
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Omenn Syndrome	Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Lymp...	ORPHA:39041
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Fasting hypoglycemia, Ketotic hypoglycemia, Increased body weight, ...	ORPHA:79240
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Hyperammonemia, Ankle flexion contracture, Elevated circulating creatine kinase con...	OMIM:618120
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Vasculitis, P...	ORPHA:343
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Cryptorchidism, I...	ORPHA:3376
Hereditary Chronic Pancreatitis	Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Cryptogenic Organizing Pneumonia	Neutrophilia, Weight loss, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Congenital Myopathy 22A, Classic	Spinal rigidity, Bradycardia, Scoliosis, High palate, Kyphosis, Tricuspid regurgitation, Thoracic...	OMIM:620351
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Alpha-Mannosidosis	Narrow palate, Hepatomegaly, Scoliosis, Kyphosis, Splenomegaly, Short neck, Recurrent respiratory...	ORPHA:61
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathi...	OMIM:277400
Galloway-Mowat Syndrome 3	Hiatus hernia, Hypoalbuminemia, Failure to thrive, Camptodactyly	OMIM:617729
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia	OMIM:610333
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Lymphoma, Ascites, Splenomegaly, Meningitis, Recurrent bacterial i...	ORPHA:36412
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased...	OMIM:300291
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas, Duodenal atresia	ORPHA:1203
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Enterocolit...	ORPHA:2686
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco...	ORPHA:100079
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Cleft palate, Short neck, Hypoplasia of the...	ORPHA:247768
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Failure to thrive, Neonatal hyperbilirubinemia,...	ORPHA:90674
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Combined Oxidative Phosphorylation Defect Type 39	Scoliosis, Cryptorchidism, Leg dystonia, Bradycardia	ORPHA:565624
Systemic Sclerosis	Nail bed telangiectasia, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal small intestine m...	ORPHA:90291
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Back pain, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Absence of intrinsic factor, Megaloblast...	OMIM:261000
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Congenital Rubella Syndrome	Thrombocytopenia, Type I diabetes mellitus, Anemia, Splenomegaly	ORPHA:290
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody...	ORPHA:3318
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Kawasaki Disease	Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:2331
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili...	ORPHA:99829
Gaucher Disease, Type Iii	Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Flexion contracture	OMIM:612952
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Metachromatic Leukodystrophy	Urinary incontinence, Neoplasm of the gallbladder, Hemobilia, Tremor, Dystonia, Abnormal duodenum...	ORPHA:512
Vacterl/Vater Association	Abnormality of the gallbladder, Abnormality of the pancreas, Ectopic kidney, Anorectal anomaly, H...	ORPHA:887
Tularemia	Anemia, Leukocytosis, Thrombocytopenia, Cutaneous abscess, Brain abscess	ORPHA:3392
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Elevated...	ORPHA:398124
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia	OMIM:613027
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, S...	ORPHA:100093
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Atrial reentry tachycardia, Pulmonary artery atresia, Total anomalous pulmo...	OMIM:270100
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Pr...	ORPHA:1332
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Type I diabetes mellitus, Elevated hemoglobin A1c	OMIM:616113
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, Arthrogryposis ...	OMIM:301056
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Weight loss, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:2902
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly	OMIM:617913
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Neoplasm of the lung, Tracheoesophageal fistula, Nodular goiter, Dysphagia, Goiter	ORPHA:142
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci...	ORPHA:168558
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Chronic oral candidiasis, B lymphocytopenia, Recurrent urinary t...	ORPHA:221139
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micropenis, Cryptorchidism...	OMIM:613861
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Senior-Boichis Syndrome	Increased total bilirubin, Hepatosplenomegaly, Anemia	ORPHA:84081
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci...	ORPHA:289548
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Bone marrow hypocellularity, Splenomegaly, Neoplasm	ORPHA:391
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Recurrent respiratory infections, Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Stromme Syndrome	Accessory spleen, Intestinal malrotation, Cleft palate, Hydronephrosis, Bilateral renal hypoplasi...	OMIM:243605
Immunodeficiency 40	Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Focal active colitis, Elevated ci...	OMIM:616433
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormal form of the vertebral bodies, Abnormality ...	ORPHA:464329
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Prolonged neona...	OMIM:170100
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Rabin-Pappas Syndrome	Hyponatremia, Obesity, Failure to thrive in infancy	OMIM:620155
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Pulmonary hypoplasia, Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Camptodactyly, Umbilical hernia	OMIM:235510
Icf Syndrome	Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, R...	ORPHA:2268
Dubowitz Syndrome	Aplastic anemia, Acute lymphoblastic leukemia, Inguinal hernia, Hypocholesterolemia	OMIM:223370
Erythrocytosis, Familial, 2	Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,...	OMIM:263400
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hepatomegaly, Intestinal pseudo-obstruction, Kyphosis, Dermatan sulfate...	OMIM:309900
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis	OMIM:611490
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Galloway-Mowat Syndrome 1	Camptodactyly, Hypoalbuminemia, Small for gestational age, Hiatus hernia, Joint contracture of th...	OMIM:251300
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin...	ORPHA:3261
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegal...	ORPHA:85212
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Inguinal hernia, Abnormal dental enamel morphology, Hyponatremia, Failure to...	ORPHA:534
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Anemia, Pancytopenia, Hyperhomocystinemia, Atrophic sca...	ORPHA:542643
Perrault Syndrome 4	Hypoplasia of the ovary, Bicornuate uterus, Cleft palate, Increased circulating gonadotropin leve...	OMIM:615300
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Bifid uvula, Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hypertension, Polycystic ovaries, Hepatic steatosis	ORPHA:79084
Japanese Encephalitis	Hyponatremia, Neutrophilia, Elbow flexion contracture	ORPHA:79139
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Failure to thrive, Hypophospha...	ORPHA:411634
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Failure to thrive, Thrombocytopenia, Umbilical hernia, Neutrop...	OMIM:614520
Jacobsen Syndrome	Annular pancreas, Abnormal form of the vertebral bodies, Ectopic anus, Scoliosis, Intestinal malr...	ORPHA:2308
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Bradycardia, Scoliosis, Thoracic kyphosis, Recurrent aspiration pneumoni...	ORPHA:70
Dietary Iron Overload Disease	Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H...	ORPHA:139507
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, T...	ORPHA:99812
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Bradycardia, Jaw claudication, Syncope, Abnormality of the cervical sp...	ORPHA:221098
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Free Sialic Acid Storage Disease	Hepatomegaly, Athetosis, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria, Recurrent respir...	ORPHA:834
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:90673
Shwachman-Diamond Syndrome 1	Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure t...	OMIM:260400
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Abnormality of the gastrointestinal trac...	ORPHA:50918
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Elevated urinary epinep...	ORPHA:653
Joubert Syndrome 37	Hepatomegaly, High palate, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis,...	OMIM:619185
Fish-Eye Disease	Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Pulmonic stenosis, Short ne...	OMIM:257300
Infant Botulism	Hyponatremia	ORPHA:178478
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100080
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Lymphaden...	ORPHA:33226
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:829
Melanoma-Pancreatic Cancer Syndrome	Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade...	OMIM:606719
Transaldolase Deficiency	Decreased liver function, Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, He...	OMIM:606003
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration	OMIM:610505
Esophageal Atresia	Abnormal vertebral morphology, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointesti...	ORPHA:1199
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles...	ORPHA:330015
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Leukopenia, Di...	ORPHA:36238
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Bradycardia	OMIM:610015
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Posteriorly placed anus, Total anomalous pulmonar...	OMIM:306955
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p...	OMIM:619573
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Recurrent respirato...	ORPHA:1775
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Vasculitis, Abnormal s...	ORPHA:32960
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections	OMIM:620296
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper...	OMIM:151660
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Aganglionic megacolon, Abnormal vertebral morphology, Anal atresia, Tracheoesop...	ORPHA:210122
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatomegaly, Gastroesophageal reflux, Per...	OMIM:201475
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Vici Syndrome	Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocyto...	OMIM:242840
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti...	OMIM:219800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Hyponatremia, Failure to thrive, Decreased ci...	ORPHA:90794
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Pleural effusion, Pericarditis, Splenomegaly	ORPHA:85414
Macrocephaly/Autism Syndrome	Hepatomegaly, High palate, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Gm1 Gangliosidosis	Congestive heart failure, Platyspondyly, Gastroesophageal reflux, Abnormal form of the vertebral ...	ORPHA:354
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Oeis Complex	Ambiguous genitalia, male, Intestinal malrotation, Absence of the sacrum, Labial hypoplasia, Pelv...	OMIM:258040
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Pleuritis, Hepatic amyloidosis, Cervical lymphadenopathy	OMIM:142680
Beta-Ketothiolase Deficiency	Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycemia, Thrombocyt...	ORPHA:134
Satoyoshi Syndrome	Hypoplasia of the ovary, Hyperlordosis, Abnormality of the ovary, Abnormality of the uterus, Hypo...	ORPHA:3130
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomegaly, Recurre...	OMIM:252920
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Duodenal stenosis, Hepatomegaly	ORPHA:1759
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Vertebral compression fracture,...	OMIM:230800
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Intestinal polyposis, Aortic regurgitation, Stomach cancer, Ascites, Vagi...	ORPHA:1052
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Increa...	OMIM:268800
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Atelectasi...	OMIM:620233
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Spider hemangioma, Adenocarcinoma of the...	ORPHA:171
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Intestinal atresia, Anemia, Duodenal atresia	ORPHA:3405
Campomelia, Cumming Type	Hepatomegaly, Abnormal intestine morphology, Pancreatic cysts, Abnormally ossified vertebrae, Cle...	ORPHA:1318
Isovaleric Acidemia	Thrombocytopenia, Leukopenia, Pancytopenia	OMIM:243500
Brucellosis	Bronchitis, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Transient ischemic attack, Pneum...	ORPHA:1304
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Increased vertebral height, Gastroesophageal reflux, Pancytopenia, Thoracic kyphosc...	OMIM:613385
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Cholestasis, Enterocolitis, Vol...	ORPHA:95427
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Leptospirosis	Thrombocytopenia, Hyperproteinemia	ORPHA:509
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Recurre...	OMIM:248500
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Hydronephrosis, Gastrointestinal dysmotility, Cryptorchidism, Micropenis,...	OMIM:617798
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:226307
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr...	ORPHA:309854
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hypospadias, Unilateral renal agenesis, ...	OMIM:137920
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp...	ORPHA:779
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Dysphagia, Gastric ulcer, Increased hepatic echogenicity, Eosinophilic infiltrati...	OMIM:147060
Trichothiodystrophy 6, Nonphotosensitive	Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Scoliosis, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomega...	OMIM:252900
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Lymphangioleiomyomatosis	Pneumothorax, Gastrointestinal hemorrhage, Hematuria, Lymphadenopathy, Emphysema, Atelectasis, Ch...	ORPHA:538
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Smith-Kingsmore Syndrome	Large for gestational age, Hypoglycemia, Thrombocytopenia, Umbilical hernia	OMIM:616638
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Failure to thrive, Microcytic anemia	ORPHA:98791
Meige Disease	Absence of lymph node germinal center, Angiosarcoma, Lymph node hypoplasia, Recurrent bacterial s...	ORPHA:90186
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Hypoglycemia, Increased blood urea nitrogen, Insulin resistance, Elevat...	ORPHA:230
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100082
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Cardiomyopa...	ORPHA:79255
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, High nonceruloplasmin-bound serum copper	ORPHA:457351
Porphyria, Congenital Erythropoietic	Corneal scarring, Elevated circulating uroporphyrin concentration, Thrombocytopenia, Splenomegaly...	OMIM:263700
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Hypotension, Chronic noninfectious lymp...	ORPHA:97287
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Recurrent respiratory i...	ORPHA:30
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Type I diabetes mellitus, Anemia, Lymphopenia	OMIM:620365
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Vasculitis, Cardiomyopathy...	OMIM:225750
Scrub Typhus	Myocarditis, Lymphadenopathy, Tremor, Hypotension, Splenomegaly, Renal insufficiency	ORPHA:83317
Holoprosencephaly	Congenital diaphragmatic hernia, Omphalocele, Hyponatremia, Abnormality of the spleen, Failure to...	ORPHA:2162
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Adams-Oliver Syndrome 5	Esophageal varix, Pulmonary arterial hypertension, Portal vein thrombosis, Pulmonic stenosis, Spl...	OMIM:616028
Zellweger Syndrome	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, High palate, Pyloric stenosis, Hydrone...	ORPHA:912
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Pneumothorax, Renal tubular epithelial necrosis, Hydroureter, Anem...	ORPHA:79404
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Cholestasis, Hypertrophic cardiomyopathy, ...	OMIM:615415
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Primary Hyperoxaluria Type 1	Calcinosis, Anemia, Hyperoxaluria, Failure to thrive, Abnormal circulating enzyme concentration	ORPHA:93598
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Spontaneous pneumothorax, Hydrocele testis	OMIM:618154
Sialuria	Hepatomegaly, Increased level of N-acetylneuraminic acid in urine, Scoliosis, Hypoplastic nipples...	OMIM:269921
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Anemia, Esophageal atresia, Unilateral renal agenesis, Aplasia of the uterus,...	OMIM:614083
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Hematuria, Lymphadenopathy, Pleural effusion, Ascites,...	ORPHA:93552
Sweet Syndrome	Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly...	ORPHA:3243
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitole...	ORPHA:79282
Distal Deletion 12Q	Kyphoscoliosis, High, narrow palate, Annular pancreas, Esophageal atresia, Ectopic kidney, Biliar...	ORPHA:96149
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Failure to thrive, Hypophosphatemi...	OMIM:229600
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology, Right ventricular hypertrophy	ORPHA:353
Feingold Syndrome 1	Gastrointestinal atresia, Annular pancreas, Esophageal atresia, Accessory spleen, High palate, Tr...	OMIM:164280
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Hypospadias, Gastroesophageal reflux, Unilateral renal agenesis, Aortic regurg...	ORPHA:464306
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d...	OMIM:214110
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pulmonary arterial hypertension, Pleural e...	ORPHA:2905
Pearson Syndrome	Steatorrhea, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, G...	ORPHA:699
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Scoliosis, High palate, Tracheoesophageal fistula, Intestinal malrotat...	ORPHA:115
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Marden-Walker Syndrome	High, narrow palate, Hypospadias, Scoliosis, High palate, Kyphosis, Pyloric stenosis, Renal hypop...	OMIM:248700
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase co...	OMIM:618641
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis	ORPHA:86884
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus t...	OMIM:232300
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Hepatomegaly, Sea-blue histiocytosis, Platyspondyly, Scoliosis, Prot...	OMIM:230600
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Pannic...	OMIM:256040
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the lung, An...	ORPHA:424016
Microform Holoprosencephaly	Hypoplasia of penis, Scoliosis, Panhypopituitarism, Cleft palate, Ambiguous genitalia, Duodenal a...	ORPHA:280200
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia	OMIM:222300
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Iron ...	ORPHA:100075
Zimmermann-Laband Syndrome	Hepatomegaly, Abnormal external genitalia, High palate, Bifid uvula, Cleft palate, Splenomegaly, ...	ORPHA:3473
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Hepatosplenomegaly, Pu...	ORPHA:99931
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Fused cervical vertebrae, Unilateral renal agenesis, Esophageal atresia, Spi...	OMIM:619227
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Bradycardia, Cleft palate, Cardiomegaly, Recurrent respiratory ...	ORPHA:97297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Gastroesophageal reflux, Unilateral renal agenesis, Aortic regurgitation, Pelvic kid...	ORPHA:464311
Q Fever	Myocarditis, Pneumonia, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Abnormal left ventricul...	ORPHA:781
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Meckel di...	ORPHA:141127
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Klatskin Tumor	Hepatomegaly, Jaundice, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Lymphopenia...	OMIM:616395
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Congestive heart failure, Hepatomegaly, Hypospadias, Hypertrophic ca...	ORPHA:1194
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Hemivertebrae, Anal atresia, Hydronephro...	OMIM:271520
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Eosinophilia	ORPHA:90045
Pseudo-Torch Syndrome 1	Decreased liver function, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase conce...	OMIM:251290
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Camptodactyly, Elevated circulati...	OMIM:614866
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly	OMIM:613730
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Periportal fibrosis, Hypoplastic nipples, Ascites, Median cleft palate...	OMIM:269860
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Hypercholesterolemia, Leukocytosis	ORPHA:90065
Ogden Syndrome	Maternal diabetes, Iron deficiency anemia, Inguinal hernia, Hyperbilirubinemia, Minimal subcutane...	OMIM:300855
Wilson Disease	Anemia, Increased body weight, Failure to thrive, Thrombocytopenia, Splenomegaly, Weight loss	ORPHA:905
Down Syndrome	Narrow palate, Aganglionic megacolon, Gastroesophageal reflux, Abnormality of the lymphatic syste...	ORPHA:870
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Hyperuricemia, Leukocytosis, Nonketotic hypoglycemia, Hyperammonemia, Leukopenia, Recurre...	ORPHA:20
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ...	OMIM:612310
Immunodeficiency 22	Panniculitis, Anemia, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thr...	OMIM:615758
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619665
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa...	ORPHA:732
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Seckel Syndrome 7	Lumbar scoliosis, Hypoplasia of the uterus	OMIM:614851
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Abnormal salivary gland mor...	OMIM:181000
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Crohn's disease, Pleural effusion, Leukocytosis, Nephrotic syndrome, Per...	OMIM:249100
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Colitis, Chronic hepatitis, Villous atrophy	OMIM:614602
Pediatric-Onset Graves Disease	Congestive heart failure, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:525731
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, High palate	OMIM:615866
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Sialuria	High, narrow palate, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:3166
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating...	OMIM:617388
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Kenny-Caffey Syndrome, Type 1	Anemia, Recurrent bacterial infections	OMIM:244460
Cog5-Cdg	Urinary incontinence, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neur...	ORPHA:263487
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Hurler-Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Scoliosis, Pulmonary arterial hypertension, Dermatan sulfate ...	OMIM:607015
Carney Triad	Gastrointestinal hemorrhage, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocyto...	ORPHA:139411
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial f...	ORPHA:137675
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Thrombocyto...	ORPHA:83313
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia	OMIM:244450
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Hypertension, Pleural effusion, Bronchiectasis,...	ORPHA:79126
H Syndrome	Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physiology, Azoospermia, Recurre...	ORPHA:168569
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Cardiomyopathy, Kyp...	OMIM:253220
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hypertension, Hypertrophic cardi...	ORPHA:79083
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Zollinger-Ellison Syndrome	Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Jaundice, Pitu...	ORPHA:913
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Enlarged kidney, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Dysphagia...	ORPHA:3260
Mednik Syndrome	Cirrhosis, Cholestasis, Microcolon, Volvulus, Hepatic fibrosis, Jejunal atresia	OMIM:609313
Leukocyte Adhesion Deficiency	Perianal abscess, Chronic oral candidiasis, Sepsis, Acute myeloid leukemia, Recurrent tonsillitis...	ORPHA:2968
Lig4 Syndrome	Pancytopenia, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopenia, Type II diabetes...	OMIM:606593
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Jaundice, Bradycardia, Tremor, 3-Methylglutaric aciduria, Dystonia, ...	OMIM:617248
Osteopetrosis With Renal Tubular Acidosis	Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Failure t...	ORPHA:2785
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Hepatomegaly, Anterior beaki...	OMIM:230000
Bone Marrow Failure Syndrome 3	Aplastic anemia, Amelogenesis imperfecta, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Ascites, Internal...	ORPHA:90308
Hurler Syndrome	Hepatomegaly, Aortic regurgitation, Cardiomyopathy, Kyphosis, Dermatan sulfate excretion in urine...	OMIM:607014
Congenital Generalized Lipodystrophy	Congestive heart failure, Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Precocious puberty in fe...	ORPHA:528
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Pulmonary artery atresia, Intestinal malrotation, Pulmonic steno...	ORPHA:3426
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Failure to thrive, Anemia	ORPHA:3322
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate, Bilateral cryptorchidism	ORPHA:314575
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Hydroureter, Microcolon, Intestinal malrotation, Hypop...	ORPHA:2241
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Cryptorchidism, Horseshoe kidney, Hypospadias	OMIM:218350
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, ...	ORPHA:2348
Serkal Syndrome	Hypospadias, Pulmonic stenosis, Pulmonary hypoplasia, Malrotation of small bowel, Abnormal penis ...	ORPHA:139466
Smith-Lemli-Opitz Syndrome	Elevated circulating 7-dehydrocholesterol concentration, Failure to thrive, Splenomegaly, Hypoalb...	OMIM:270400
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619203
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased serum pyruvate, Hyperalanine...	OMIM:619355
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Persistence of hemoglobin F, Umbilical hernia	OMIM:619769
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Scoliosis, High palate, Pyloric stenosis, Precocious puberty, Bifid uvula, Cleft palate, Cryptorc...	ORPHA:96184
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Degcags Syndrome	Anemia, Iron deficiency anemia, Pancytopenia, Hyperbilirubinemia, Abnormal spleen morphology, Fai...	OMIM:619488
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Scoliosis, Neoplasm of the lung,...	ORPHA:2796
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis,...	OMIM:619431
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Scolios...	OMIM:615381
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Scol...	OMIM:230500
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Pelvic kidney, Cleft palate, Recurrent aspiration pneumonia, Cryptorchidism, Duode...	OMIM:247200
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Elevated circulating alanine aminotransferase ...	OMIM:300842
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ...	OMIM:619350
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Fg Syndrome 3	Pyloric stenosis, Cryptorchidism	OMIM:300406
Mogs-Cdg	Pulmonary edema, External genital hypoplasia, Hepatomegaly, High palate, Dystonia, Hepatosplenome...	ORPHA:79330
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Hypercalciuria, Meconium ile...	OMIM:219700
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ...	OMIM:155310
Familial Dysautonomia	Hyponatremia	ORPHA:1764
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Papa Syndrome	Crohn's disease, Proteinuria, Lymphadenopathy	ORPHA:69126
Cutis Laxa, Autosomal Recessive, Type Ic	Rectal prolapse, Multiple bladder diverticula, Emphysema, Atelectasis, Gastroesophageal reflux, A...	OMIM:613177
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Pancytopenia, Va...	OMIM:615846
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Cirrhosis, Jaundice, Hepatomegaly, ...	ORPHA:57777
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Pulmonary insufficiency, Hepatomegaly, Anterior wedging of L2, Sinus tachycardia,...	OMIM:253200
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami...	OMIM:230400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Retinal hemorrhage, Tachycardia	OMIM:614653
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency...	ORPHA:556
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du...	OMIM:619079
Alagille Syndrome	Hepatomegaly, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Spina bifida occul...	ORPHA:52
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma, Cholestasis, ...	ORPHA:60
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Enamel hypoplasia, Failure to thrive, Hypophos...	ORPHA:289157
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Umbilical hernia	OMIM:218700
Chromomycosis	Lymphangiectasis, Squamous cell carcinoma, Recurrent bacterial infections, Multiple cutaneous mal...	ORPHA:182
Ulnar-Mammary Syndrome	Hypoplasia of penis, Breast aplasia, Ectopic anus, Hypoplastic nipples, Anal atresia, Pyloric ste...	ORPHA:3138
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Thrombocytopenia	OMIM:611126
Popliteal Pterygium Syndrome	Spina bifida occulta, Bifid scrotum, Bifid uvula, Cleft palate, Hypoplasia of the vagina, Small s...	OMIM:119500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphop...	ORPHA:508542
Thyroid Lymphoma	Lymphadenopathy, Goiter, Dysphagia	ORPHA:97285
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Shwachman-Diamond Syndrome 2	Normocytic anemia, Steatorrhea, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:617941
Juvenile Sialidosis Type 2	Hepatomegaly, Abnormal form of the vertebral bodies, Visceromegaly, Protruding tongue, Hepatosple...	ORPHA:93399
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Gastroesophageal reflux, Scoliosis, Vesicoureteral reflux, High pa...	OMIM:616975
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology	ORPHA:103907
Congenital Sialidosis Type 2	Hepatomegaly, Ascites, Protruding tongue, Hepatosplenomegaly, Respiratory tract infection, Abnorm...	ORPHA:93400
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Peters Plus Syndrome	Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Sacral dim...	ORPHA:709
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Braddock-Carey Syndrome 1	Enamel hypoplasia, Thrombocytopenia, Camptodactyly	OMIM:619980
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Ascites, Tricuspid regurgitati...	OMIM:619433
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia	ORPHA:169105
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology,...	ORPHA:93111
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Renal insufficie...	ORPHA:261494
Lumbar Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Bifid uterus, Blad...	ORPHA:83628
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, Elevated circulating hepatic transaminase concentration, Cryptorchidism, High p...	OMIM:310400
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Lowry-Maclean Syndrome	High, narrow palate, Hypospadias, Midgut malrotation, Abnormality of the abdominal organs, Bilate...	ORPHA:2409
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Fg Syndrome Type 1	Sacral dimple, Hypospadias, Gastroesophageal reflux, Small pituitary gland, High palate, Anal atr...	ORPHA:93932
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Mucopolysaccharidosis Type 6	Kyphosis, Mucopolysacchariduria, Ovoid vertebral bodies, Splenomegaly, Recurrent upper respirator...	ORPHA:583
Hurler Syndrome	Hepatomegaly, Abnormal vertebral morphology, Angina pectoris, Abnormality of the tonsils, Scolios...	ORPHA:93473
Okamoto Syndrome	Anal stenosis, Urinary incontinence, Gastroesophageal reflux, Scoliosis, Exaggerated median tongu...	ORPHA:2729
Maffucci Syndrome	Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor...	ORPHA:163634
Meckel Syndrome 14	Pneumothorax, Polycystic kidney dysplasia, Aplasia of the uterus, Tricuspid regurgitation, Short ...	OMIM:619879
Hyperferritinemia With Or Without Cataract	Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat...	OMIM:600886
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Vertebral compression fracture, Scoliosis, Central vertebral hypoplasia, Vertebral ...	OMIM:602557
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Small for gestat...	OMIM:242900
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Chops Syndrome	High, narrow palate, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Vesicoureteral ref...	OMIM:616368
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Acute Intermittent Porphyria	Hyponatremia	ORPHA:79276
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome...	OMIM:238600
Hyperekplexia 3	Hiatus hernia, Syncope, Exaggerated startle response, Gastroesophageal reflux	OMIM:614618
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, Multicystic kidney dysplas...	OMIM:607361
Complement Component 5 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:609536
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response, Mitral regurgitation	ORPHA:309155
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty...	OMIM:615812
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Hypertension, Decreased testicular...	OMIM:202010
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Congestive heart failure, Jaundice, Hepatomegaly, Gastroesophageal refl...	OMIM:608779
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic anemia	ORPHA:514
Lymphatic Malformation 6	Intestinal lymphangiectasia, Gastroesophageal reflux, Chylothorax, Scoliosis, Pleural effusion, A...	OMIM:616843
8P11.2 Deletion Syndrome	Sacral dimple, Azoospermia, Hypoplasia of penis, Spherocytosis, High palate, Splenomegaly, Hypogo...	ORPHA:251066
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Failure to thrive, Hypokalemia	OMIM:618426
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Coccidioidomycosis	Abnormality of the female genitalia, Pneumonia, Pancreatitis, Mediastinal lymphadenopathy, Lympha...	ORPHA:228123
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Elevated pulmonary artery pressure, Bidirectional shunt, Anuria, Microcolon, Pulmo...	OMIM:619351
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Pulmonary edema, Hepatomegaly, Left bundle branch block, Reduced left v...	OMIM:115197
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia	ORPHA:903
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Respiratory tract inf...	ORPHA:79128
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Gastroesophageal reflux, Scoliosis, Hydronephrosis, Acu...	ORPHA:2092
Pagod Syndrome	Abnormal testis morphology, Pulmonary artery hypoplasia, Female pseudohermaphroditism, Arrhythmia...	ORPHA:991
Cranioectodermal Dysplasia 2	Inguinal hernia, Hyperbilirubinemia, Splenomegaly, Polysplenia	OMIM:613610
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Chylothorax, Ascites, Pyloric stenosis, Lymphangioma, Splenomega...	ORPHA:2136
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Asymmetric septal hypertrophy, Short neck, Ovoid thoracolumbar vertebrae, Hypoplast...	OMIM:252940
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:600901
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
Urachal Cyst	Abscess, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:488
Tick-Borne Encephalitis	Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:297
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Decreased body weight, Leuko...	ORPHA:340
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Mucopolysaccharidosis Type 7	Anterior beaking of lumbar vertebrae, Scoliosis, Ascites, Mucopolysacchariduria, Splenomegaly, Ab...	ORPHA:584
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Thrombocytopenia, Leukopenia, Flexion contracture, Neutropenia	OMIM:616271
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastro...	ORPHA:73230
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperglycemia, Hyperlipidemia, Obesity	ORPHA:293987
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Decreased response to growth hormone stimulation test, Aortic regurgitati...	OMIM:614114
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul...	ORPHA:75565
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Scoliosis, Vesicoureteral ...	ORPHA:96169
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, Platyspondyly, Lymphadenopathy, Recurrent respiratory infections, Tubulointerstit...	OMIM:607944
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Vesicoureteral reflux, Total...	OMIM:115470
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Abnormal form of the vertebral bodies, ...	ORPHA:3109
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Periventricular Nodular Heterotopia	Pyloric stenosis, Scoliosis, Aortic regurgitation, Gastroesophageal reflux	ORPHA:98892
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:605911
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Scoliosis, Hem...	OMIM:261540
Primary Ciliary Dyskinesia	Recurrent otitis media, Asplenia, Recurrent mycobacterial infections, Recurrent sinopulmonary inf...	ORPHA:244
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Dyst...	OMIM:241080
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Spina bifida occulta, Scoliosis, Vesicoureteral reflux, Anal a...	OMIM:617466
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Trisomy 18P	Pyloric stenosis, High, narrow palate, Bilateral cryptorchidism	ORPHA:1715
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Pericarditis, Hematochezia,...	ORPHA:73263
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Neoplasm of the pancreas, Pheochromocytoma, Hypertension, Pituitary ...	ORPHA:652
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:227650
Desmosterolosis	Intestinal malrotation, Bifid uvula, Cleft palate, Splenomegaly, Ambiguous genitalia, Submucous c...	ORPHA:35107
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mel...	OMIM:616026
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Congenital Short Bowel Syndrome	Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ...	OMIM:615237
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Fused cervical vertebrae, Meckel diverticulum, Vesicoureteral reflu...	OMIM:274000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Decreased testicular size, Splenomegaly, Hypogonadism	OMIM:201100
Primary Sjögren Syndrome	Normochromic anemia, Bronchitis, Biliary cirrhosis, Leukopenia, Lymphopenia, Normocytic anemia, V...	ORPHA:289390
Behçet Disease	Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Aortic regurgitation, Pleuritis, Vasc...	ORPHA:117
Cornelia De Lange Syndrome 1	Ectopic kidney, Malrotation of colon, Hypospadias, Cleft palate, Pneumonia, Reduced renal cortico...	OMIM:122470
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Hyperbilirubinemia, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinem...	OMIM:619534
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyom...	OMIM:617100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:613989
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole...	ORPHA:97278
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Hypospadias, High palate, Bifid scrotum, Anal atresia, Pyloric stenosi...	OMIM:619148
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Hepatocellular carcinoma, Dysur...	OMIM:176000
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Sp...	ORPHA:2072
Scedosporiosis	Abnormal jejunum morphology, Pleuritis, Bronchitis, Pleural empyema, Pericarditis, Pulmonary fibr...	ORPHA:449280
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Charge Syndrome	Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Lymphopenia, Decreased response to growt...	OMIM:214800
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613990
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia	OMIM:613987
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia, Inguinal hernia	ORPHA:96181
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Scoliosis, Aplasia of the uterus, Cleft palate, Thrombocytopenia, Horse...	ORPHA:3320
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Flexion contracture, Small for gestati...	OMIM:227645
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, High palate, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Somatostatinoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Intra...	ORPHA:97283
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation	OMIM:614074
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Hypert...	ORPHA:79259
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Gastroesophageal reflux, Accessory spleen, Abnormal form of the verte...	OMIM:194190
Plague	Hematemesis, Hepatomegaly, Tachycardia, Glossitis, Acute infectious pneumonia, Lymphadenitis, Hyp...	ORPHA:707
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased heart rate variability, Scoliosis, High palate, Kyphosis, Decreased hemog...	OMIM:619005
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Prolonged QT interval, Hypoplasia of penis, Cardiomyopathy, Splenomegaly, H...	ORPHA:373
Yellow Nail Syndrome	Renal neoplasm, Hypoplasia of lymphatic vessels, Neoplasm of the lung, Sarcoma, Biliary tract neo...	ORPHA:662
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Alg9-Cdg	Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Torticollis, Gastroesophageal reflux, Peri...	ORPHA:79328
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Encephalitis Lethargica	Urinary incontinence, Tremor, Bradycardia	ORPHA:83600
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Scoliosis, Kyphosis, Intestinal malrotation, Aortic valve stenosis, Bi...	ORPHA:955
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane...	OMIM:615512
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Pleural effusion, Lymphadenopathy, Pneumothorax	ORPHA:411703
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Familial Isolated Restrictive Cardiomyopathy	Pulmonary edema, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Hypertrophic car...	ORPHA:75249
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Dysphagia, Thrombocytopenia, Car...	OMIM:608013
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Atelectasis, In...	ORPHA:333
Thymoma	Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Hypospadias, Azoospermia, Scolio...	ORPHA:1772
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Bronchiolitis, Thrombocytopenia, Splenomegaly, Dys...	OMIM:230900
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Mediast...	ORPHA:199241
Deeah Syndrome	Narrow palate, Decreased response to growth hormone stimulation test, Hepatomegaly, Decreased hea...	OMIM:619004
Feingold Syndrome Type 1	Gastrointestinal atresia, Esophageal atresia, Vesicoureteral reflux, Tricuspid stenosis, Anal atr...	ORPHA:391641
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Urinary incontinence, Cryptorchidism	ORPHA:169189
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer, Kinetic tremor, Tremor	OMIM:190310
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus, High palate	OMIM:110100
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Pulmonary artery aneurysm, Emphysema, Bradycardia, High palate, Pulmonar...	OMIM:614437
Duodenal Atresia	Duodenal atresia	OMIM:223400
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas...	OMIM:612301
Gaucher Disease	Decreased HDL cholesterol concentration, Anemia, Elevated circulating C-reactive protein concentr...	ORPHA:355
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Subarachnoid hemorrhage	OMIM:277175
Immune Dysregulation, Autoimmunity, And Autoinflammation	Epistaxis, Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Abnormality of t...	ORPHA:722
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia, Obesity	OMIM:620072
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Pancreatitis, Supra...	ORPHA:280365
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Microphallus, Sacrococcygeal pilonidal abn...	ORPHA:468631
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Neurooculorenal Syndrome	Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Cocaine Intoxication	Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Acute ki...	ORPHA:90068
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Anemia, Glossitis, Hamartomatous polyposis, Hematochezia, Gastrointes...	OMIM:175500
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1606
Stiff-Person Syndrome	Anemia, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Lumbar hyperlordosis	OMIM:184850
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Inguinal hernia, Pancytopenia, Umbilical hernia, Obesity, Thrombocytopenia, Leukopenia, L...	OMIM:620654
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly, Aortic regurgitation	ORPHA:93474
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Proteus-Like Syndrome	Bronchogenic cyst, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parat...	ORPHA:2969
Bloom Syndrome	Squamous cell carcinoma, Abnormality of chromosome stability, Lymphoma, Decreased circulating IgG...	OMIM:210900
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Midgut malrotation, Pyloric stenosis, Cleft palate, Cryptorchidism, Micrope...	OMIM:263750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Hepatomegaly, Dystonia, Splenomegaly, Recurrent respi...	OMIM:617050
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Anorectal anomaly, Hypertensive crisis, ...	ORPHA:567
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Phocomelia, Schinzel Type	Aplasia/Hypoplasia of the sacrum, High, narrow palate, Hypoplasia of penis, Aplasia of the uterus...	ORPHA:2879
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Gastroesopha...	ORPHA:363705
Noonan Syndrome	Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Scoliosis, H...	ORPHA:648
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Macroglossia, Furrowed tongue, Lymphadenopathy	ORPHA:2483
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Glucagonoma	Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancreas, Intra...	ORPHA:97280
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Increased body weight, Thrombocytopenia, Mic...	ORPHA:244242
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy...	ORPHA:308552
Listeriosis	Unusual skin infection, Sepsis, Liver abscess, Jaundice, Splenic abscess, Abnormal cellular immun...	ORPHA:533
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp...	ORPHA:449432
Ebola Hemorrhagic Fever	Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:319218
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Third heart sound, Ta...	ORPHA:1329
Koolen-De Vries Syndrome	Narrow palate, Sacral dimple, Spondylolisthesis, Scoliosis, Vesicoureteral reflux, High palate, K...	OMIM:610443
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hear...	ORPHA:228308
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Thrombocytopenia, Anemia, Camptodactyly	ORPHA:261323
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Anal stenosis, Bifid penis, Urinary incontinence, Abnormal...	ORPHA:322
Hyperekplexia 2	Hiatus hernia, Exaggerated startle response, Gastroesophageal reflux	OMIM:614619
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Recurrent viral upper respiratory tract in...	OMIM:615577
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Zimmermann-Laband Syndrome 1	Hepatomegaly, Gastroesophageal reflux, Long penis, Spina bifida occulta, Scoliosis, High palate, ...	OMIM:135500
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Gastroesophageal reflux, Scoliosis, Small intestinal dysmotility, Ineffecti...	OMIM:619482
Combined Oxidative Phosphorylation Deficiency 39	Scoliosis, Recurrent respiratory infections, Sinus bradycardia, Dystonia	OMIM:618397
Fanconi-Bickel Syndrome	Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Increased hepati...	ORPHA:2088
Noonan Syndrome 4	Large for gestational age, Thrombocytopenia	OMIM:610733
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Pancreatic hypoplasia, Microcolon, Intestinal malrotation,...	OMIM:600001
Lathosterolosis	Anisopoikilocytosis, Failure to thrive, Thrombocytopenia, Abnormal platelet morphology	ORPHA:46059
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Meckel diverticulum, Cardiomyopathy, Intestinal malrotation, Pulmonic stenosis, ...	OMIM:312870
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis, Myelodysplasia	ORPHA:71493
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Gastroesophageal reflux, Athetosis, Blepharospasm, Hypotension, L...	OMIM:608643
Jacobsen Syndrome	Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Pyloric stenosis, Thromboc...	OMIM:147791
Digeorge Syndrome	Recurrent sinusitis, Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Gastroesophageal reflux, Scoliosis, Pyloric stenosis, Cleft palate...	ORPHA:261197
Glycogen Storage Disease Ic	Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypoglycemia, Cyclic neutropenia	OMIM:232240
Arima Syndrome	Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros...	OMIM:243910
Adams-Oliver Syndrome	Failure to thrive, Thrombocytopenia, Leukopenia	ORPHA:974
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Renal hypoplasia, Cleft palate, Pulmonary h...	OMIM:219000
Plasminogen Deficiency, Type I	Duodenal ulcer, Nephritis, Nephrolithiasis, Recurrent upper respiratory tract infections	OMIM:217090
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Gastroesophageal reflux, Increased blood pr...	ORPHA:90324
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Anemia, Neoplasm of the rectum, Neoplasm of the sma...	ORPHA:44890
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Coffin-Siris Syndrome 1	Duodenal ulcer, Clitoral hypertrophy, Sacral dimple, Hydroureter, Hypospadias, Ectopic kidney, Sp...	OMIM:135900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Leprechaunism	Rectal prolapse, Enlarged kidney, Clitoral hypertrophy, Hepatomegaly, Long penis, Hypercalciuria,...	ORPHA:508
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Myocardial infarction, Abnormal lymph node morphology, Pancreatic adenoc...	ORPHA:99889
Postinfectious Vasculitis	Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i...	ORPHA:48435
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Raynaud phenomenon, Lymphopenia, Pulmonary fibr...	OMIM:615934
Pulmonary Alveolar Microlithiasis	Pneumothorax, Hepatomegaly, Hematuria, Pleural thickening, Testicular microlithiasis, Bronchitis,...	ORPHA:60025
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Fused cervical vertebrae, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia,...	ORPHA:83617
Spondyloocular Syndrome	Platyspondyly, Duodenal ulcer, Vertebral compression fracture, Unilateral cryptorchidism	OMIM:605822
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro...	ORPHA:1876
Cardiogenic Shock	Congestive heart failure, Hepatomegaly, Abnormal left ventricular function, Low-output congestive...	ORPHA:97292
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux...	ORPHA:2237
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Fused cervical vertebrae, Neutrophilia, Splenomegaly, Pulmonary fibrosis	OMIM:612852
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Shawl scrotum, Hepatic fibrosis, Pa...	OMIM:616263
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis...	ORPHA:329971
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia, Decreased body weight, Failure to thrive, Obesity, Overweight	OMIM:619475
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of...	ORPHA:906
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Abnormal cardiovascular system physiology, Hypertension, Acute pancreati...	ORPHA:79086
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Cog8-Cdg	Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration	ORPHA:95428
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Recurrent bacterial infections	ORPHA:2176
Infantile Myofibromatosis	Fibroma, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the skin, Neoplasm of the l...	ORPHA:2591
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 3rd finger, Elbow flexion contracture, T...	OMIM:612394
Illum Syndrome	Bradycardia	OMIM:208155
Townes-Brocks Syndrome 1	Anal stenosis, Hypospadias, Rectovaginal fistula, Gastroesophageal reflux, Renal insufficiency, V...	OMIM:107480
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Intestinal polyposis, Angina pectoris, Scoliosis, Hamartomatous polyposis, Abnorma...	ORPHA:109
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Multiple renal cysts, Splenome...	ORPHA:116
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Sacral dimple, Hypospadias, Anal atresia, Intestinal malrotation, P...	OMIM:305450
Atelis Syndrome 2	Thrombocytopenia, Hyperinsulinemia, Anemia	OMIM:620185
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Aplasia of the thymus	OMIM:620186
Gardner Syndrome	Gastrointestinal carcinoma, Neoplasm of the pancreas, Small intestine carcinoid, Desmoid tumors, ...	ORPHA:79665
Williams Syndrome	Hypoplasia of penis, Abnormal form of the vertebral bodies, Hypertension, Hyperlordosis, Cerebral...	ORPHA:904
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly, Recurrent respirat...	OMIM:612132
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:394
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Anemia, Abnormal hemoglobin	ORPHA:847
Diets-Jongmans Syndrome	Cryptorchidism, Hypospadias, Duodenal atresia	OMIM:618846
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Thrombocytopenia, Pancytopenia	OMIM:224230
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Abnormality of the gallbladder, Hypoplasia of penis, Abnormal form of the v...	ORPHA:818
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Tremor, Exaggerated startle response, Cryptorchidism	OMIM:620327
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ...	OMIM:146255
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:269700
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Hyperinsulinemia, Reduced thyroxin-binding globuli...	ORPHA:79318
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Congestive heart failure, Multiple bladder diverticula, Emphysema, Abnormal cardiac...	ORPHA:90349
Aspartylglucosaminuria	Beaking of vertebral bodies, Hepatomegaly, Abnormal vertebral morphology, Anterior beaking of lum...	ORPHA:93
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block	OMIM:616812
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Shoulder flexion contracture, Hyperbilirubinemia, Elbow flexion contracture, Failure to thrive, H...	OMIM:210710
Hydrolethalus Syndrome 1	Abnormal lung lobation, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Access...	OMIM:236680
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:227646
Familial Adenomatous Polyposis	Neoplasm of the gallbladder, Pancreatic adenocarcinoma, Duodenal polyposis, Colorectal polyposis,...	ORPHA:733
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Axial dystonia, Bone-marrow foam cells, Tremor, Ascites, Limb dystonia, I...	ORPHA:646
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Intraalveolar phosph...	OMIM:615486
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Gastroesophageal r...	OMIM:619525
Blau Syndrome	Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Hypertensio...	ORPHA:90340
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma...	ORPHA:1677
Stevens-Johnson Syndrome	Thrombocytopenia, Abnormality of neutrophils, Anemia, Weight loss	ORPHA:36426
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Acute Liver Failure	Hyperammonemia, Hypoglycemia, Thrombocytopenia	ORPHA:90062
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary c...	OMIM:620454
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Gaucher Disease Type 3	Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splen...	ORPHA:77261
Vipoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochromic anemia, Increased ...	ORPHA:97282
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Weight loss, Neutropenia	ORPHA:537
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Myocardial infarction, Gastroesophageal reflux, Scoliosis,...	ORPHA:3342
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Paraneoplastic Pemphigus	B-cell lymphoma, Sarcoma, Thymoma	ORPHA:63455
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Umbilical hernia, HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Tay-Sachs Disease	Tremor, Exaggerated startle response, Aspiration pneumonia, Precocious puberty, Dystonia, Dysphag...	ORPHA:845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Cutis Laxa, Autosomal Recessive, Type Iiib	Pyloric stenosis, Cryptorchidism, Athetosis	OMIM:614438
Aspartylglucosaminuria	Beaking of vertebral bodies, Hepatomegaly, Spondylolysis, Spondylolisthesis, Vacuolated lymphocyt...	OMIM:208400
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Absence of subcutaneous fat, Severe B lymphocytopenia, Thrombocytopenia...	OMIM:620005
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Aortic regurgitation, Scoliosis, High palate, Tricuspid regurgitation, Intestinal m...	OMIM:601776
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Esophageal ulceration, Gastric ulcer, Iron deficiency anemia	OMIM:618372
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituit...	ORPHA:1359
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Tremor, Pulmonary arterial hypertension, Pulmonary artery ...	ORPHA:667
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Hemothorax, Anemia, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Cervical i...	OMIM:130050
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Aplasia of the epiglottis, Hepatomegaly, Splenomegaly, Vaginal atresia, Horsesh...	OMIM:617088
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Gastroesophageal reflux, Scoliosis, Vesicoureteral reflux, Nephrolithiasis, Exaggerated s...	ORPHA:438213
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Holoprosencephaly 13, X-Linked	Butterfly vertebrae, Gastroesophageal reflux, Median cleft palate, Vertebral clefting, Cleft pala...	OMIM:301043
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Anemia	OMIM:612199
Apert Syndrome	Narrow palate, Esophageal atresia, Ectopic anus, Cervical C5/C6 vertebrae fusion, Pyloric stenosi...	OMIM:101200
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea	ORPHA:3217
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Gastroesophageal reflux	OMIM:620114
African Trypanosomiasis	Myocarditis, Congestive heart failure, Jaundice, Urinary incontinence, Lymphadenopathy, Hepatomeg...	ORPHA:3385
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Microcolon	OMIM:619362
Camurati-Engelmann Disease	Hepatomegaly, Anemia, Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Hypertrophic...	ORPHA:1328
Osteogenesis Imperfecta, Type X	Vertebral compression fracture, Scoliosis, Nephrolithiasis, Pyloric stenosis, Recurrent pneumonia...	OMIM:613848
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Neonatal hyperbilirubinemia	OMIM:300896
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Frontometaphyseal Dysplasia 2	Fused cervical vertebrae, Gastroesophageal reflux, Neurogenic bladder, Scoliosis, High palate, Py...	OMIM:617137
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Leukocytosis, Azotemia, Abdominal obesity	OMIM:619321
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Flexion contracture, Splenomegaly, Limb joint contracture, Truncal obesity	OMIM:301072
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Viss Syndrome	Pulmonary artery aneurysm, Kyphosis, Intestinal malrotation, Malposition of the stomach, Bifid uv...	OMIM:619472
Dubowitz Syndrome	Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia	ORPHA:235
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Cachexia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Eisenmenger Syndrome	Aortopulmonary window, Ascites, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated ...	ORPHA:97214
Cutis Laxa, Autosomal Recessive, Type Iic	Pneumothorax, Kyphoscoliosis, Aortic regurgitation, Right bundle branch block, High palate, Media...	OMIM:617402
Monosomy 22	Hypochromic microcytic anemia, Sarcoma, Meningioma, Hepatosplenomegaly, Gonadal neoplasm, Schwann...	ORPHA:96123
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Marden-Walker Syndrome	Epispadias, Hydroureter, Hypospadias, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis,...	ORPHA:2461
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly	OMIM:231005
Menke-Hennekam Syndrome 2	Duodenal ulcer, Recurrent upper respiratory tract infections	OMIM:618333
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Sacral dimple, Hypospadias, Gastroesophage...	ORPHA:268261
Ulnar-Mammary Syndrome	Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate...	OMIM:181450
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, High palate, Exaggerated startle response	OMIM:618056
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma	ORPHA:626
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture, Intestina...	ORPHA:79403
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Enuresis nocturna, Conjunctival telangiec...	ORPHA:420741
Cherubism	Narrow palate, Marcus Gunn pupil, Submandibular lymph node enlargement	OMIM:118400
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia	OMIM:251260
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Plaa-Associated Neurodevelopmental Disorder	High palate, Kyphosis, Exaggerated startle response, Impaired oropharyngeal swallow response, Dys...	ORPHA:521426
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, High palate, Cryptorchidism, Precocious puberty, Cardiomegaly, Macroglossia, Labial...	ORPHA:96191
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Scoliosis, High palate, Grade III vesicouretera...	OMIM:619522
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Xerostomia, Abnorm...	ORPHA:79078
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Abnormality of the cervical spine, Hepatosplenomegaly, Anemia	ORPHA:85408
Knobloch Syndrome	Pyloric stenosis, Vesicoureteral reflux, Lymphangioma, Bifid ureter	ORPHA:1571
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ...	ORPHA:284339
Limb-Mammary Syndrome	Cleft hard palate, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bil...	ORPHA:69085
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Patent Urachus	Cystocele, Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, High palate, Dysphagia, Exaggerated startle response	OMIM:617527
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Cystic Fibrosis	Nontuberculous mycobacterial pulmonary infection, Cirrhosis, Recurrent Staphylococcus aureus infe...	ORPHA:586
Iniencephaly	Hyperlordosis, Absent vertebra, Anal atresia, Duodenal atresia	ORPHA:63259
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, High palate, Exaggerated startle response	ORPHA:438216
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Thoracic kyphoscoliosis, Aplasia/Hypoplastia of the eccrine sw...	ORPHA:1662
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis, Exaggerated startle response	OMIM:609541
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, High palate, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Weight loss, Hemolytic anemia	ORPHA:536
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft palate, Cleft soft palate, Bifid uterus	ORPHA:2736
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia	OMIM:305000
Branchiooculofacial Syndrome	Hypospadias, Gastroesophageal reflux, Hyperlordosis, Duplication of internal organs, Renal cyst, ...	OMIM:113620
Fanconi Anemia	Anemia, Thrombocytopenia, Leukopenia, Weight loss, Umbilical hernia, Pyridoxine-responsive sidero...	ORPHA:84
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Aortopulmonary window, Pulmonary arterial hypertension, Pulmonary artery hypoplasia...	OMIM:620025
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine...	ORPHA:790
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Gastroesophageal reflux	OMIM:615574
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Cervical spinal canal stenosis, Generalized lymphadenopathy, Vertebral compression fracture	OMIM:620232
Costello Syndrome	Pneumothorax, Lymphangiectasis, High palate, Hypertrophic cardiomyopathy, Pyloric stenosis, Pulmo...	OMIM:218040
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the...	ORPHA:158684
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Vascular Ehlers-Danlos Syndrome	Pneumothorax, Gastrointestinal infarctions, High, narrow palate, Pulmonary artery aneurysm, Hypos...	ORPHA:286
Aicardi-Goutières Syndrome	Lipoatrophy, Panniculitis, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Diab...	ORPHA:51
Neurofibromatosis Type 1	Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Neoplasm of the gastrointestinal tract, ...	ORPHA:636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Scoliosis, Exaggerated startle response, Pulmonic stenosis, Dilated cardiomyopathy	OMIM:253800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Scoliosis, Exaggerated startle response	ORPHA:320406
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Exaggerated startle response	ORPHA:3198
Granulomatosis With Polyangiitis	Granulomatosis	OMIM:608710
Pallister-Killian Syndrome	Kyphoscoliosis, Aplasia of the uterus, Intestinal malrotation, Aortic valve stenosis, Bifid uvula...	OMIM:601803
Loeys-Dietz Syndrome	Scoliosis, Cardiac arrest, High palate, Bifid uvula, Uterine rupture	ORPHA:60030
Roberts Syndrome	Progressive flexion contractures, Thrombocytopenia, Wrist flexion contracture, Knee flexion contr...	ORPHA:3103
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysph...	ORPHA:261537
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Meningitis, Pancreatitis, Granulomatosis	ORPHA:900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Narrow palate, Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, High palate, H...	OMIM:276820
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Scoliosis, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Meconium Ileus	Meconium ileus, Microcolon	OMIM:614665
Mowat-Wilson Syndrome	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysph...	ORPHA:2152
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Alkaptonuria	Hemolytic anemia, Methemoglobinemia	ORPHA:56
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Bifid scrotum, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Bifid uvu...	ORPHA:261552
Neu-Laxova Syndrome 1	Cleft palate, Pulmonary hypoplasia, Bifid uterus, Short neck, Cryptorchidism	OMIM:256520
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Mowat-Wilson Syndrome	Aganglionic megacolon, Hypospadias, Bifid scrotum, Pyloric stenosis, Pulmonic stenosis, Pulmonary...	OMIM:235730
Osteogenesis Imperfecta	Inguinal hernia, Abnormal dental enamel morphology, Thrombocytopenia, Flexion contracture, Dentin...	ORPHA:666
Microphthalmia, Syndromic 1	Kyphoscoliosis, High, narrow palate, Rectal prolapse, Aganglionic megacolon, Hypospadias, Hydrour...	OMIM:309800
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response, Lacticaciduria	OMIM:620451
Holt-Oram Syndrome	Sacral dimple, Cervical C2/C3 vertebral fusion, Cleft soft palate, Pulmonary arterial hypertensio...	OMIM:142900
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Chikungunya	Cervical lymphadenopathy, Raynaud phenomenon, 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 infections, Recurrent respiratory infections, Recurrent bacterial infections	ORPHA:2273
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Exaggerated startle response	OMIM:618367
Noonan Syndrome 1	Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Hereditary Sensory And Autonomic Neuropathy Type 4	Tooth abscess, Anemia, Abscess, Recurrent Staphylococcus aureus infections	ORPHA:642
Norrie Disease	Scoliosis, Uterine rupture, Cryptorchidism	ORPHA:649
Dysosteosclerosis	Platyspondyly, Hypoplastic vertebral bodies, Irregular vertebral endplates	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	Life Stage
Spleen - MPATH pathological process term hyperplasia	Slc29a3^em1(IMPC)Mbp	HOM	Early adult
Lymph node - MPATH pathological process term hyperplasia	Slc29a3^em1(IMPC)Mbp	HOM	Early adult
Liver - MPATH pathological process term hyperplasia	Slc29a3^em1(IMPC)Mbp	HOM	Early adult
Spleen - MPATH pathological process term atrophy	Slc29a3^em1(IMPC)Mbp	HOM	Early adult
Pancreas - MPATH pathological process term fibrosis	Slc29a3^em1(IMPC)Mbp	HOM	Early adult
Small intestine - MPATH pathological process term hyperplasia	Slc29a3^em1(IMPC)Mbp	HOM	Early adult
Bone marrow - MPATH pathological process term hyperplasia	Slc29a3^em1(IMPC)Mbp	HOM	Early adult

IMPC related publications

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

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

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MGI Allele	Allele Type	Produced
Slc29a3^{tm48176(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc29a3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Slc29a3^{em1(IMPC)Wtsi}	Point Mutation	Mice
Slc29a3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc29a3 MGI:1918529

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Slc29a3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data