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Gene: Cxcr4 MGI:109563

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Gene Summary

Name:
C-X-C motif chemokine receptor 4
Synonyms:
PB-CKR,  Cmkar4,  CD184,  b2b220Clo,  Sdf1r,  fusin

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Cxcr4em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Cxcr4em1(IMPC)Mbp HET Early adult 1.94×10-08
preweaning lethality, complete penetrance Cxcr4em1(IMPC)Mbp HOM   Early adult 0.00
increased leukocyte cell number Cxcr4em1(IMPC)Mbp HET Early adult 1.98×10-05
microphthalmia Cxcr4em1(IMPC)Mbp HET E15.5 0.00
enlarged spleen Cxcr4em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Cxcr4em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Cxcr4em1(IMPC)Mbp HET Early adult 0.00
decreased circulating creatinine level Cxcr4em1(IMPC)Mbp HET Early adult 1.04×10-05
abnormal placenta morphology Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta size Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
abnormal limb morphology Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
enlarged testis Cxcr4em1(IMPC)Mbp HET Early adult 0.00
increased monocyte cell number Cxcr4em1(IMPC)Mbp HET   Early adult 1.39×10-06
abnormal spleen morphology Cxcr4em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Cxcr4em1(IMPC)Mbp HET E15.5 0.00
increased lymphocyte cell number Cxcr4em1(IMPC)Mbp HET Early adult 9.78×10-05
embryonic growth retardation Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
abnormal eyelid morphology Cxcr4em1(IMPC)Mbp HET Early adult 3.54×10-05
abnormal placenta size Cxcr4em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Cxcr4em1(IMPC)Mbp HET E15.5 0.00
abnormal testis morphology Cxcr4em1(IMPC)Mbp HET Early adult 0.00
edema Cxcr4em1(IMPC)Mbp HOM E15.5 0.00

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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

37 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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Human diseases caused by Cxcr4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cxcr4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... ORPHA:51636

The table below shows human diseases predicted to be associated to Cxcr4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... OMIM:231060
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... OMIM:301082
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... OMIM:613101
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... ORPHA:397596
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of naive T cells, Abnormal im... ORPHA:276
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... OMIM:616005
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... ORPHA:3093
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... ORPHA:83313
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ... OMIM:173900
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiac Valvular Dysplasia 1
Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s... OMIM:212093
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... OMIM:618986
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... ORPHA:295
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... OMIM:617478
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... OMIM:619902
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly OMIM:269840
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Patent ductus arteriosus, Diarrhea, Anemia, Perimembranou... OMIM:608104
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... ORPHA:540
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p... OMIM:619462
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... OMIM:192430
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat... OMIM:619644
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation, Polycystic kidney dysplasia OMIM:614859
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amn... OMIM:608540
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination,... OMIM:608184
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract ORPHA:1705
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c... ORPHA:1166
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia... OMIM:615934
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,... OMIM:603553
Microphthalmia, Syndromic 9
Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus,... OMIM:601186
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, S... OMIM:618815
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Hydrops fetal... OMIM:269920
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... ORPHA:75564
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Narrow palpebral fissure, Blepharophimosis OMIM:300238
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... OMIM:615122
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Distal Triplication 15Q
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... ORPHA:314588
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Birk-Aharoni Syndrome
Duplicated collecting system, Muscular ventricular septal defect, Micropenis OMIM:620071
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... ORPHA:391641
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Abnormality of the... ORPHA:101028
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Arterial stenosis, Cerebral artery atherosclerosis, Nephrotic syndrome, Abnormal mit... ORPHA:1192
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... OMIM:604213
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ... ORPHA:3392
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa... ORPHA:158061
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Epicanthus, Telecanthus, Proteinuria, Thrombocytopenia, Splenomegaly, Synophrys, Op... OMIM:617303
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Mungan Syndrome
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis OMIM:611376
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis OMIM:616833
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... OMIM:615816
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ... ORPHA:163596
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Fetal pericardial effusion,... OMIM:620014
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morpho... ORPHA:1926
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron... OMIM:614846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:3162
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hydrops fetalis, Abnormality of neuronal migration, Polyhydramnios ORPHA:2204
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Hydrops fetalis, Abnormal vagina morphology, Anemia, Ascites, Th... ORPHA:2123
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial ... OMIM:620070
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
17Q11.2 Microduplication Syndrome
Macroorchidism, Sparse eyelashes, Sparse eyebrow ORPHA:139474
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... ORPHA:1727
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Fetal Gaucher Disease
Decreased fetal movement, Pancytopenia, Death in infancy, Fetal akinesia sequence, Splenomegaly, ... ORPHA:85212
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu... OMIM:220210
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... OMIM:600001
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Synophrys, Upslanted palpebral fissure OMIM:300143
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi... ORPHA:2326
Trisomy 17P
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef... ORPHA:261290
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Palpebral edema, Blepharophimosis ORPHA:85286
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Death in childhood OMIM:613759
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Pulmonary embolism, Cong... ORPHA:90308
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection OMIM:135580
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Aortic valve atresia, Coarctation ... OMIM:220111
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
H Syndrome
Abnormal eyebrow morphology, Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, ... ORPHA:168569
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... OMIM:617021
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Dysphag... OMIM:616276
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess... OMIM:612541
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Vasculitis in the skin, Recurrent lower respiratory tract infections... OMIM:620321
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... OMIM:304790
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Polymicrogyria OMIM:618973
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Lymph node hypoplasia, T lym... OMIM:300755
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... ORPHA:846
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia OMIM:608776
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... ORPHA:465
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytop... OMIM:616738
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Decre... ORPHA:90362
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Neuraminidase Deficiency
Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lymphocytes, Hydrops... OMIM:256550
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Int... OMIM:618839
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth... OMIM:618835
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect, Poor suck, Feeding difficulties OMIM:619717
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Bicuspid aor... OMIM:619825
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Increase... ORPHA:2137
Congenital Enterovirus Infection
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... ORPHA:292
Cardiomyopathy, Familial Restrictive, 6
Death in infancy, Hydrops fetalis, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites OMIM:619433
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce... OMIM:617872
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata... OMIM:611773
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Partington Syndrome
Macroorchidism ORPHA:94083
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis, Feeding diffic... OMIM:618205
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Death in infancy, Ventricular septal defect OMIM:614876
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Decrease... ORPHA:353298
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... OMIM:617591
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... ORPHA:98850
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... ORPHA:562
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Congenital Heart Block
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Leukocyto... ORPHA:2902
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... OMIM:618494
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Clark-Baraitser syndrome
Macroorchidism, Downslanted palpebral fissures OMIM:300602
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Telecanthus ORPHA:3055
Nanophthalmos
Microphthalmia ORPHA:35612
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Micropenis... OMIM:616897
Trisomy 1Q
Small scrotum, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increased nuchal transl... ORPHA:261344
Trisomy 20P
Epicanthus, Hypospadias, Abnormality of the kidney, Highly arched eyebrow, Blepharophimosis, Cryp... ORPHA:261318
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... ORPHA:70588
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged ble... OMIM:231200
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphad... OMIM:260920
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Ataxia-Telangiectasia
Abnormal testis morphology, Polycystic ovaries, Decreased circulating antibody level, Lymphopenia... ORPHA:100
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Fetal pyelectasis, Pulmonary hypoplasia, Cerebellar hypoplasia, Cer... OMIM:616531
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Elevated circulatin... ORPHA:180229
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome... ORPHA:464329
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... ORPHA:1041
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocyto... ORPHA:1304
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol... ORPHA:2198
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Sneddon Syndrome
Intracranial hemorrhage, Nephropathy, Arterial stenosis ORPHA:820
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Pachygyria, Abnormal natural kill... OMIM:615966
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Epicanthus, Pancreatic fibrosis, Upslanted palpebral fissure, Hepatic fibrosis, Pol... OMIM:200995
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... ORPHA:158048
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... ORPHA:2686
Nanophthalmos 4
Microphthalmia OMIM:615972
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Sialidosis Type 2
Splenomegaly, Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hy... OMIM:620010
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce... OMIM:616433
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve pr... ORPHA:230839
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Asbestos Intoxication
Right ventricular failure, Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal ... ORPHA:2302
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Epicanthus, True hermaphroditism, Septate vagina, Gonadal tissue ina... OMIM:194080
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Nonimmune hydrops fetalis ORPHA:477774
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Ptosis OMIM:610539
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Downslanted palpebral fissures, Polycystic ovaries ORPHA:284180
Simple Cryoglobulinemia
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia... ORPHA:91139
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Abnormality of neutrophils, Splenomegaly, Lymp... ORPHA:33226
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... OMIM:301074
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopa... OMIM:232500
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept... OMIM:158170
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... ORPHA:1572
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Death in childhood, Feeding difficulties OMIM:620368
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... ORPHA:980
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema ORPHA:70589
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating cr... OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... OMIM:613153
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Juvenile Polyposis Of Infancy
Refractory anemia, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Patent ductus ... ORPHA:79076
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... OMIM:208000
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left vent... OMIM:614096
Sotos Syndrome
Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ... OMIM:117550
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Proteinuria, Heparan sulfate excret... ORPHA:505248
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... OMIM:613001
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Elev... ORPHA:91547
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... ORPHA:562639
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin... ORPHA:77259
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab... ORPHA:477817
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Coloboma, Portal fibr... OMIM:619111
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... OMIM:300972
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, Neonatal death, Micropenis, Pe... OMIM:300219
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Renal hypoplasia, Abn... ORPHA:84064
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta ORPHA:1923
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation, Anemia OMIM:618838
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyelashes, Hypospadias, Sparse eyebrow, Macroorchidism, Iris coloboma OMIM:618874
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctation o... ORPHA:1120
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Skeletal muscle atrophy, Secundum atrial septal defect, Splenomegaly, Congestiv... OMIM:608779
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Trisomy 13
Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Hydrops fetalis, ... ORPHA:3378
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect OMIM:615731
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... ORPHA:229717
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Renal agenesis, Unilateral renal agenesis OMIM:619227
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Renal agenesis... ORPHA:508498
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Polyhydramnios, Abnormal heart valv... ORPHA:99776
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... ORPHA:70587
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Premature ovarian insufficiency, Hype... OMIM:212065
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Vasculitis, Arterial stenosis, ... ORPHA:3287
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... OMIM:219730
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Mulibrey Nanism
Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Pericardial constriction, Intrauterine growth... OMIM:253250
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Feeding difficulties OMIM:614249
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Perimembranous vent... OMIM:618651
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Gm1-Gangliosidosis, Type I
Death in infancy, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated ... OMIM:230500
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o... ORPHA:400
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology OMIM:613390
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel urgency, Abdom... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel urgency, Abdom... ORPHA:100082
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Anemia, Irregular... ORPHA:79259
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, ... ORPHA:2516
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... ORPHA:449427
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Nephrolithiasis,... OMIM:232200
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Anemia, Intrauterine growth retardation, Ascites, Thromb... ORPHA:79325
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Gastrointestinal dysmotility, Atrial septal ... OMIM:619189
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, I... ORPHA:464321
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Felty Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... ORPHA:251004
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Fragile X Syndrome
Macroorchidism ORPHA:908
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney... OMIM:606232
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst OMIM:263630
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ... ORPHA:169105
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... ORPHA:169802
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... ORPHA:51636
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Feeding difficulties... ORPHA:3282
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv... OMIM:614034
Boomerang Dysplasia
Cryptorchidism, Hydrops fetalis, Polyhydramnios ORPHA:1263
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyopathy, Perineal hypospa... ORPHA:66634
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:353281
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Atelectasis, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Solitary Rectal Ulcer Syndrome
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chronic constipat... ORPHA:209964
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... ORPHA:297
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Hydrops fe... ORPHA:79329
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse... OMIM:115470
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... ORPHA:171
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
3C Syndrome
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Ab... ORPHA:7
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te... ORPHA:85446
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Feeding difficulties, Bradycardia, Hypertrophic card... OMIM:616277
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Lymphopenia OMIM:605309
Osteopetrosis, Autosomal Recessive 9
Papilledema, Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine... OMIM:620366
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tubular epitheli... ORPHA:228308
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath... ORPHA:157
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... OMIM:614262
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... OMIM:613870
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Poo... OMIM:301040
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Abdominal pain, Malabsorption, Leukocyto... ORPHA:2070
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Hydronephrosis OMIM:619797
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Prune Belly Syndrome
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormal EKG, Anemia, Abnormality of the gastrointestinal tract,... ORPHA:85443
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropen... ORPHA:79312
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac... ORPHA:26791
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Parotitis, Orchitis, Splenomegaly, ... ORPHA:99827
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Abnormal... ORPHA:500159
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept... ORPHA:2059
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Renal malrotation, Proteinuria, Absence of rena... OMIM:120330
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Lujo Hemorrhagic Fever
Shock, Lymphopenia, Renal insufficiency, Excessive bleeding after a venipuncture, Myocarditis, Le... ORPHA:319213
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos... ORPHA:261494
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils ORPHA:154
Verheij Syndrome
Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus OMIM:615583
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Diaphanospondylodysostosis
Epicanthus, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, C... OMIM:608022
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Joubert Syndrome 18
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:614815
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failu... ORPHA:49827
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cerebellar dysplasia OMIM:250951
Free Sialic Acid Storage Disease
Splenomegaly, Ascites, Hydrops fetalis ORPHA:834
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... ORPHA:457083
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Feeding difficulties in infancy, Patent ductus arteriosus, Ventricular sept... OMIM:618974
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias OMIM:617751
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... ORPHA:2237
Rift Valley Fever
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... ORPHA:319251
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Hypoplastic spleen, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Muckle-Wells Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocytosis, Conjunc... OMIM:191900
Senior-Loken Syndrome 1
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... OMIM:266900
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect... ORPHA:538
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Alg12-Cdg
Hypospadias, Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertro... ORPHA:79324
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... ORPHA:2847
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:214110
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus ... ORPHA:452
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hydrocele testis, Pleural ... ORPHA:69735
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Iron... OMIM:300855
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis OMIM:620327
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Miscarriage, Cryptorchidism, Hydrocephalus, Hydrops fetalis, Abnormal heart morpho... ORPHA:1865
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu... OMIM:274150
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... OMIM:242840
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Fetal... OMIM:620167
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Horseshoe kidney OMIM:619318
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... OMIM:267010
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hypocal... OMIM:612526
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ... ORPHA:2298
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Congenital Rubella Syndrome
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Atrial septa... ORPHA:290
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal renal morpho... ORPHA:329224
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Hydronephrosis OMIM:222300
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Feeding difficulties, Persist... OMIM:619769
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ... ORPHA:47
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Hydrops fetal... OMIM:617022
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta... ORPHA:2044
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis ORPHA:457193
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... OMIM:618052
Dengue Fever
Nausea and vomiting, Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Renal dysplasia, Elevated circulating creatinine concentration, Abn... OMIM:616733
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b... ORPHA:169805
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Abnormal heart morpholog... ORPHA:401935
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... OMIM:203500
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Noonan Syndrome 12
Ventricular septal defect, Feeding difficulties in infancy, Tetralogy of Fallot, Lymphopenia, Thr... OMIM:618624
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Epicanthus, Telecanthus, Cryptorchidism, Leukocy... ORPHA:99812
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Epicanthus, Chronic neutr... ORPHA:500095
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... OMIM:615688
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Splenomegaly, Gastrointestinal hemorrhage, Malabsorption ORPHA:79301
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing... ORPHA:185
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, H... ORPHA:90790
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Ground-glass opacification, Atelectasis, Leukocytosis, Bronchiectasis, A... OMIM:620233
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesic... OMIM:300707
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... OMIM:616589
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Igg4-Related Ophthalmic Disease
Cholangitis, Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ... ORPHA:449563
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Polycystic ovaries, Coar... ORPHA:371428
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Ventricular septal defect, Hypospadias, Pulmonary artery atresia, M... OMIM:301056
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone... OMIM:154230
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Hypospadias OMIM:300997
Mmep Syndrome
Microphthalmia ORPHA:3434
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I... ORPHA:136
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin... OMIM:614376
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Distal Deletion 15Q
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... ORPHA:1596
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... ORPHA:261311
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ... ORPHA:101070
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... OMIM:209010
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Feeding difficulties, Mitral regurgitation, ... OMIM:615355
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:353277
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi... OMIM:618885
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Lymphatic Malformation 1
Hydrocele testis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonim... OMIM:153100
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Retinal arteriolar t... ORPHA:567
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Pulmonic stenosis OMIM:620141
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... ORPHA:90060
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Ankyloblepharon, Sex reversal, Microphallus, Ambiguou... OMIM:612651
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Thakker-Donnai Syndrome
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Hemochromatosis, Neonatal
Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Coarctat... OMIM:180849
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... ORPHA:276280
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease OMIM:613148
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Lynch Syndrome
Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Death in infancy, Death i... ORPHA:144
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, ... OMIM:613155
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag... OMIM:619909
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d... OMIM:102500
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration, Microangiopathic ... ORPHA:93552
Lymphatic Malformation 13
Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Hydrocel... OMIM:620244
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis OMIM:618950
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Atherosclerosis, Acute kidney i... ORPHA:650
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... OMIM:606812
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Hydrocephalus, Atelectasis, Anencephaly, Renal hypoplasia, Holoprosencephaly, Pulmo... OMIM:269860
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Gaucher Disease Type 3
Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Craniofacioskeletal Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Interrupted aortic arch, Atrial... OMIM:300712
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Atrial septal de... OMIM:614866
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Optic disc coloboma... ORPHA:2260
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... OMIM:617341
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Hydronephrosis OMIM:300048
Distal Deletion 12Q
Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki... ORPHA:96149
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Gm1 Gangliosidosis
Premature birth, Ventricular septal defect, Splenomegaly, Hydrops fetalis, Abnormal heart morphol... ORPHA:354
Mirage Syndrome
Cryptorchidism, Patent ductus arteriosus, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, De... OMIM:617053
Achondrogenesis, Type Ii
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema OMIM:200610
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Meckel Syndrome 14
Polycystic kidney dysplasia, Single ventricle OMIM:619879
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ptosis OMIM:309520
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:66628
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Zaki Syndrome
Patent ductus arteriosus, Renal agenesis, Patent foramen ovale, Hydronephrosis OMIM:619648
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Hyperc... ORPHA:90674
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... OMIM:614816
Yellow Fever
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Leukocytosis... ORPHA:99829
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... OMIM:606003
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hyperammonemia... ORPHA:1667
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Mitral valv... OMIM:175050
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Prolonged bleeding time, Gastritis, ... ORPHA:809
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis... ORPHA:288
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar... OMIM:210710
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta, Hydronephr... OMIM:614921
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Renal insufficiency, Pericarditis, Epistaxis, Hematem... ORPHA:73263
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Femoral-Facial Syndrome
Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni... OMIM:134780
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Telangiectasia of the skin,... ORPHA:679
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:179494
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe... ORPHA:116
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, Diarrhea, C... ORPHA:99745
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, M... OMIM:618278
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Vascular dilatation, Abnormal heart morphology, Ovarian cyst, Poly... OMIM:311200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Hepat... ORPHA:367
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Abdominal pain, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Chro... OMIM:615895
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... ORPHA:906
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Mitral valve prolapse OMIM:104350
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial... OMIM:616546
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, C... OMIM:249000
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arte... OMIM:201000
Q Fever
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn... ORPHA:781
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn... ORPHA:186
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney ORPHA:166035
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Parotitis, Increased circulating... OMIM:256040
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Cerebellar vermis hypoplasia, Ventricular septal defect, Hydrops fetalis, La... OMIM:263520
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Thromboc... ORPHA:108
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Eosinophilia ORPHA:2314
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral... ORPHA:96201
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Double outlet right ventricle, He... ORPHA:3426
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Epicanthus, Elevated circulating creatine kinas... OMIM:615673
Farber Disease
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections, Hep... ORPHA:333
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Cerebellar hypoplasia, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Patent duct... OMIM:610443
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Esophageal... ORPHA:974
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve, Micropenis OMIM:243310
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distributi... OMIM:187900
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, P... OMIM:613177
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... OMIM:146510
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen... OMIM:216360
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Feeding difficulties OMIM:620393
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Lymphoid Interstitial Pneumonia
Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Hypoplasia of penis, Small scrotum, Nonimmune hydrops f... OMIM:617667
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Anorexia, Abdominal p... ORPHA:3452
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... ORPHA:2255
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... ORPHA:324636
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret... ORPHA:250989
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... ORPHA:79330
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Thick eyebrow, Epicanthus, Precocious puberty, Unilateral renal hypoplasia, Upslanted palpebral f... OMIM:619950
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:610733
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Death in infancy, Pancytopenia, Ventricular septal defect, Splenomegaly, Paten... OMIM:614576
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... ORPHA:293978
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Duane-Radial Ray Syndrome
Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl... OMIM:607323
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Atelis Syndrome 1
Ventricular septal defect, Feeding difficulties, Anemia, Leukopenia, Atrial septal defect, Thromb... OMIM:620184
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Cardiomyopathy, Pontocerebellar atrophy, Reduced left ventricular ejection fraction,... ORPHA:258
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy ORPHA:343
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol... ORPHA:59303
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... OMIM:618901
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Diamond-Blackfan Anemia 7
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal d... OMIM:612562
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Epicanthus, Palpebral edema, Increased serum beta-hexosaminidase, Cardiomegaly, Spa... OMIM:252500
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Ventricular septal defect, Esophageal atresia, Patent ductus a... OMIM:300514
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph... OMIM:235255
Charge Syndrome
Overriding aorta, Ventricular septal defect, Renal agenesis, Pulmonary artery atresia, Secundum a... OMIM:214800
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Leukocytosis, Renal amyloidosis, Elevated circulating C-reactive protein concentr... OMIM:120100
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Hennekam Syndrome
Pachygyria, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating anti... ORPHA:2136
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... ORPHA:508533
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplen... OMIM:619657
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney... OMIM:235510
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst OMIM:615181
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy ORPHA:139402
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation... OMIM:307200
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... ORPHA:453499
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Epicanthus, Hypogonadotropic hypogonadism, Splenomegaly, C... ORPHA:251066
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Intracranial hemorrhage, Interr... ORPHA:163979
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Epicanthus, Decreased response to growth hormone stimulation ... OMIM:615873
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... OMIM:220500
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Abnormal T cell morphology... OMIM:242900
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... ORPHA:125
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of... OMIM:618454
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... ORPHA:50918
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Feeding difficult... OMIM:617450
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Ptosis OMIM:619046
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Hydrops fetal... OMIM:300868
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... ORPHA:160
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thy... ORPHA:744
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten... OMIM:188400
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect ORPHA:228399
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat... OMIM:618886
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Telecanthus, Ureteral hypoplasia, Periportal fibrosis, B... ORPHA:79328
Monosomy 13Q34
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium ORPHA:96168
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:611134
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
49,Xxxyy Syndrome
Epicanthus, External genital hypoplasia, Abnormality of the testis size, Increased circulating go... ORPHA:261534
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Thymoma, Decreased circulating... ORPHA:227990
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def... OMIM:615668
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level OMIM:617425
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Peritonitis, Elevated circul... ORPHA:90038
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Dopamine Beta-Hydroxylase Deficiency
Bilateral ptosis, Elevated urinary dopamine level, Elevated circulating creatinine concentration,... ORPHA:230
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Abdominal pain, Conges... ORPHA:727
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesi... ORPHA:247691
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Biliary cirrhosis,... ORPHA:227982
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... ORPHA:1655
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... OMIM:270100
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Epicanthus, Elevated circulating creatine kinase concentration, ... OMIM:611881
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Crome Syndrome
Renal tubular epithelial necrosis, Cerebellar dysplasia OMIM:218900
Kagami-Ogata Syndrome
Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus, Flexion contr... OMIM:608149
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Poor appetite, Anorexia, Lack of bowel sounds, Bloody d... ORPHA:100075
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... ORPHA:370022
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia OMIM:617260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Ascending aorta hypoplasia,... OMIM:619503
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, ... OMIM:618316
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Feeding difficulties OMIM:618506
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Tarp Syndrome
Subdural hemorrhage, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis OMIM:311900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Poems Syndrome
Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Polycythemia, Increased ci... ORPHA:2905
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Lymphadenopathy, Decre... ORPHA:289390
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Testicular atr... OMIM:618165
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Joubert Syndrome 20
Renal cyst OMIM:614970
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hydrops fetalis, Dehydra... OMIM:557000
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Oculoskeletodental Syndrome
Hepatomegaly, Epicanthus, Renal agenesis, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalci... OMIM:618440
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic... ORPHA:444072
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis, Aortopulmonary collater... OMIM:617557
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a... ORPHA:141127
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Mosaic Trisomy 1
Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarctation of aorta, Pulmonary arte... ORPHA:1692
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale, Hydrops fetalis OMIM:228520
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Dysbetalipoproteinemia
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Renal steatosis, Peripheral arterial... ORPHA:412
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Opitz Gbbb Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Abnormal... ORPHA:2745
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena... ORPHA:49
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct... OMIM:600460
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Urinary incontinence, Carotid artery stenosis, Lacunar stroke, Arterio... OMIM:600142
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Hydrocephalus, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, Abnorm... ORPHA:79282
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Hydrops fetalis, Cardiomyopathy OMIM:253220
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
Gaucher Disease
Death in infancy, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abno... ORPHA:355
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... OMIM:618460
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, A... OMIM:130720
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Death in childhood OMIM:612938
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi... ORPHA:36426
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Aapoaiv Amyloidosis
Proteinuria, Cardiac amyloidosis, Abnormal renal medulla morphology, Renal interstitial amyloid d... ORPHA:439232
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem... OMIM:620040
Familial Colorectal Cancer Type X
Nausea and vomiting, Gastrointestinal hemorrhage, Neoplasm of the colon, Abdominal pain, Malabsor... ORPHA:440437
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Lymphocytosis, Short eye... OMIM:258360
Campomelia, Cumming Type
Oligohydramnios, Death in infancy, Hydrops fetalis, Lymphedema ORPHA:1318
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphol... OMIM:616737
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Abnormal heart morphology, Abnormality of the urinary system, Micropenis, Tetralogy... ORPHA:96092
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal cardiac septum morphology, Ves... ORPHA:96169
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula... ORPHA:2461
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464311
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... OMIM:614080
Emanuel Syndrome
Torticollis, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... OMIM:609029
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Unilateral renal agenesis OMIM:614900
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d... OMIM:164210
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Constipation, Tetral... ORPHA:2328
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect, Hydrops fetalis ORPHA:268249
Joubert Syndrome 14
Intracranial hemorrhage, Ventricular septal defect, Renal cyst OMIM:614424
Zellweger Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hypospadias ORPHA:912
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Intrauterine g... ORPHA:79255
Seckel Syndrome 2
Growth delay, Microphthalmia, Short stature OMIM:606744
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Conjunctivitis,... ORPHA:575
Aase-Smith Syndrome I
Death in infancy, Flexion contracture, Ventricular septal defect OMIM:147800
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Pyloric stenosis, Contracture of the distal interphalangeal joint of th... ORPHA:83617
Pierpont Syndrome
Microphthalmia, Short stature OMIM:602342
Bardet-Biedl Syndrome 17
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:610168
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Cardi... OMIM:605275
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Robinow Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation o... ORPHA:97360
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Pure red cell aplas... ORPHA:124
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Bicuspid aortic valve OMIM:616367
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Sudden cardiac death, Ab... ORPHA:537
Gastrointestinal Stromal Tumor
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... OMIM:617107
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... OMIM:613309
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect OMIM:602501
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Lymphangiectasis, Renal cyst OMIM:602579
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Intestinal polyposis, Gastrointestinal hemorrhage, Transient ischemi... ORPHA:774
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Hydronephrosis ORPHA:3079
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Hypospadias OMIM:616449
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... ORPHA:391665
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Carney Complex
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma... ORPHA:1359
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... ORPHA:79319
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Recurrent respiratory infecti... ORPHA:534
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Acrocardiofacial Syndrome
Death in infancy, Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Feeding di... ORPHA:2008
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Noonan Syndrome 10
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... OMIM:616564
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... OMIM:231005
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, K... ORPHA:435638
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation, Epicanthus OMIM:618541
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus, Feeding difficulties OMIM:617516
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased n... ORPHA:3472
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Vater/Vacterl Association
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d... OMIM:192350
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... ORPHA:157794
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Pulmonary arte... OMIM:611812
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... OMIM:614922
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Left superior vena cava dr... ORPHA:464738
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Pericardial effusion, Splenomegaly, Hematemes... OMIM:615846
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis ORPHA:2315
Pierpont Syndrome
Microphthalmia ORPHA:487825
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Complement deficiency, Lymphadenopathy ORPHA:36412
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia OMIM:614833
Hemophilia B
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma OMIM:306900
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel urgency, Abdom... ORPHA:100080
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Abnormality of the amniotic fluid, Hydrops fetalis OMIM:609015
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Czeizel-Losonci Syndrome
Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydron... ORPHA:2437
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Pulmonary hypoplasia, Bruisi... ORPHA:536467
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin ORPHA:90037
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, A... OMIM:618870
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464306
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Ren... OMIM:214100
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g... ORPHA:3474
Lymphatic Filariasis
Orchitis, Lymphadenitis, Circulating immune complexes, Abnormality of the lymphatic system, Hyper... ORPHA:2035
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Serkal Syndrome
Congenital diaphragmatic hernia, Malrotation of small bowel, Ventricular septal defect, Pulmonic ... ORPHA:139466
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy ORPHA:26790
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Aorti... ORPHA:56
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronep... OMIM:618653
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Abdominal pain, Chronic diarrhea, Chronic constipation, Vo... OMIM:142680
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... OMIM:612863
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Patent ductus art... OMIM:602782
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Leprechaunism
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy... ORPHA:508
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl... ORPHA:280633
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Patent ductus ... ORPHA:2092
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... ORPHA:1507
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Death in infancy, Ventricular septal defect, Atrial septal defect, Arthrogrypo... OMIM:208085
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis ORPHA:39812
Bresek Syndrome
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Say-Barber-Miller Syndrome
Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level,... ORPHA:3132
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic... OMIM:610759
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I... ORPHA:183675
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s... OMIM:301068
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Persi... OMIM:619268
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Patent ductus arterio... OMIM:300963
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration,... ORPHA:536
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... OMIM:609942
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism ORPHA:93
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... OMIM:272950
Melnick-Needles Syndrome
Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis ORPHA:2484
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enur... ORPHA:96121
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Papillary renal cell carcinoma, Intracranial... ORPHA:363618
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, P... OMIM:618183
Marburg Hemorrhagic Fever
Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperam... ORPHA:99826
Trisomy 8P
Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal left ventricle morphology, Neph... ORPHA:264450
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Hydronephrosis OMIM:619179
Myeloma, Multiple
Paraproteinemia OMIM:254500
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... OMIM:181000
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Hydrops fetalis, Dehydration, Abnormal heart morphol... ORPHA:699
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Myop... ORPHA:3463
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hyposegmentation of neutrophil nuclei ORPHA:250999
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:620075
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus, Renal dysplasia, Hydronephrosis OMIM:300968
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Patent ductus arterio... OMIM:244300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve OMIM:619720
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Feeding difficulties in infancy, Abnormal heart morph... ORPHA:254534
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Hypo... OMIM:619321
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Pulmonary artery ... ORPHA:991
Bloom Syndrome
Elevated hemoglobin A1c, Cryptorchidism, Decreased circulating total IgM, Leukemia, Decreased cir... OMIM:210900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... ORPHA:2519
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Nasolacrimal du... OMIM:604173
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... ORPHA:90324
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Ventricular septal defect, Hydronephrosis OMIM:617798
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Primary ame... ORPHA:79083
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... OMIM:239200
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Feeding difficulties, Hematochezia, Chronic constipation, Peripheral p... OMIM:619575
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis OMIM:257920
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Highly arch... ORPHA:1454
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Squalene Synthase Deficiency
Bicuspid aortic valve, Hypospadias OMIM:618156
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Patent ductus arteriosus, Feeding difficulties, Chro... OMIM:617061
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Caffey Disease
Increased circulating antibody level ORPHA:1310
Arterial Tortuosity Syndrome
Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an... ORPHA:3342
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Anemia, ... ORPHA:470
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... OMIM:100300
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Epicanthus, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal ... OMIM:312870
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys OMIM:252920
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Emanuel Syndrome
Multiple joint contractures, Ventricular septal defect, Congenital diaphragmatic hernia, Patent d... ORPHA:96170
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula ORPHA:77298
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypospadias, Abnormal renal collecting system morphology, Patent ductus arteriosus, Methylmalonic... ORPHA:17
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Pulm... OMIM:280000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Genitopatellar Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bacterial endocarditis, S... ORPHA:97214
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Vo... ORPHA:1059
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Galactosialidosis
Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Feeding difficulties, Gastroesophageal reflux, Constipation, Dysphagia... OMIM:614961
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia ORPHA:2959
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Hypoplastic left h... ORPHA:2308
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased response to growth ho... OMIM:615577
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron... OMIM:611209
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocyto... ORPHA:77297
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat... ORPHA:676
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Feeding difficulties, Coronary artery fistul... OMIM:620024
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr... ORPHA:264580
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Atelectasis, Large v... ORPHA:728
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Tarp Syndrome
Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, ... ORPHA:2886
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Alagille Syndrome 1
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... OMIM:118450
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Elevated circulati... ORPHA:340
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2143
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Complete atrioventricular canal defect, Pulmona... OMIM:190685
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia OMIM:235555
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure OMIM:613812
Axial Osteomalacia
Renal cyst OMIM:109130
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Feeding difficulti... OMIM:618775
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, Meningocele, Hydrops fetalis, Aplasia of the uterus, Intraut... ORPHA:2879
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Respiratory tract infection, Atelectasis, Vasculitis, Shortened PR int... ORPHA:365
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... OMIM:153400
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria ORPHA:445038
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Camptodactyly, Atrial sept... OMIM:301039
Costello Syndrome
Ventricular septal defect, Feeding difficulties in infancy, Mitral valve prolapse, Macroglossia, ... ORPHA:3071
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... OMIM:251880
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... ORPHA:2637
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Chronic constipation, Atrial... OMIM:612582
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr... ORPHA:79240
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:616901
Temtamy Syndrome
Microphthalmia ORPHA:1777
Urachal Cyst
Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Pyuria, Dysuria, ... ORPHA:488
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Feeding difficulties OMIM:615102
Burn-Mckeown Syndrome
Atrial septal defect, Feeding difficulties in infancy, Ventricular septal defect, Hypomimic face OMIM:608572
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch, Nephroblastoma OMIM:267000
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma... ORPHA:1556
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Peripheral arterial stenosis... OMIM:259900
Filippi Syndrome
Ventricular septal defect OMIM:272440
Behçet Disease
Aortic regurgitation, Nausea and vomiting, Pericarditis, Gastrointestinal hemorrhage, Myositis, M... ORPHA:117
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol... OMIM:607626
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat... OMIM:619991
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Flexion contracture, Feeding difficulties, Gastroesophageal reflux, Ga... ORPHA:79243
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Functional abnormality of the bladder, Nephrolithiasis, Horsesho... ORPHA:2953
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Rhabdomyolysis ORPHA:79095
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Baller-Gerold Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V... ORPHA:1225
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level ORPHA:3409
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Ventricular septal defect, Feeding difficulties OMIM:617635
Apert Syndrome
Overriding aorta, Ventricular septal defect, Hydronephrosis OMIM:101200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:250410
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... OMIM:618641
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bicuspid aortic valve, Abnormality of the kidney, Epispadias, Horseshoe kidney, Coar... ORPHA:1772
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Renal insufficiency, Testicular teratoma ORPHA:764
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricula... OMIM:613404
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicular size OMIM:201100
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time OMIM:214950
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Stage 5 ... OMIM:222700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... ORPHA:453504
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... ORPHA:363958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... ORPHA:352665
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... ORPHA:2969
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Umbilical hernia, Lens coloboma OMIM:618914
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Hypospadias, Cryptorchidism, Absence of labia majora, Hydrops fetalis OMIM:265000
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Feeding difficulties in infancy, Pulmonic stenosis, Camptoda... OMIM:619123
Woods Syndrome
Ventricular septal defect OMIM:615236
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... ORPHA:261197
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove... ORPHA:508488
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrha... ORPHA:900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis... ORPHA:369837
Chops Syndrome
Splenomegaly, Cryptorchidism, Synophrys, Optic atrophy, Horseshoe kidney, Long eyelashes, Vesicou... OMIM:616368
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma ORPHA:1001
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology, Feeding difficulties, Gastroesophageal refl... ORPHA:494344
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... ORPHA:369891
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Tuberous Sclerosis 1
Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... OMIM:191100
Vici Syndrome
Gray matter heterotopia, Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... ORPHA:90003
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbil... ORPHA:30391
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Feeding difficulties ORPHA:3306
Cranioectodermal Dysplasia 2
Polyhydramnios, Splenomegaly, Hydrops fetalis, Polysplenia, Atrial septal defect, Left ventricula... OMIM:613610
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:614800
Tetrasomy 9P
Renal dysplasia, Pericarditis, Recurrent urinary tract infections, Juxtaductal coarctation of the... ORPHA:3310
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis OMIM:114065
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... OMIM:620369
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Organic aciduria, Conjunctivitis OMIM:253260
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Feeding difficulties, Pulmonary artery atres... OMIM:620113
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Flexion contracture, Feeding difficulties, Chronic constipation, Atria... OMIM:617452
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Lymphedema, Hydrocephalus, Abnormal heart morphology, Chylothorax ORPHA:137667
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Hepatic failure, Ventricular septal defect OMIM:615630
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom... ORPHA:91500
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, Horseshoe kidney, P... OMIM:268300
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly ORPHA:2189
Wilson Disease
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... OMIM:277900
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Hypospadias ORPHA:2075
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Chronic constipation, Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Generalized lymphadenopathy, De... ORPHA:420741
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites... ORPHA:646
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Enlarged kidney, Cardiomegaly OMIM:261740
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Ventricular septal... OMIM:270400
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
19P13.3 Microduplication Syndrome
Ventricular septal defect, Constipation, Gastroesophageal reflux, Pulmonary arterial hypertension... ORPHA:447980
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Congenital posterior ... OMIM:136140
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti... OMIM:300166
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Unilateral renal agenesis ORPHA:457284
Beck-Fahrner Syndrome
Feeding difficulties in infancy, Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Abnormal cardiac septum morphol... ORPHA:138
Atelis Syndrome 2
Epicanthus, Remnants of the hyaloid vascular system, Anemia, Dacryocystocele, Short palpebral fis... OMIM:620185
Frontometaphyseal Dysplasia 1
Hydroureter, Cor pulmonale, Hydronephrosis, Mitral valve prolapse OMIM:305620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Death in infancy, Encephalocele, Partial absence of cerebellar vermis, Hydr... OMIM:613150
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Pulmonic stenosis, Atrial ... OMIM:257300
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... OMIM:613254
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Ventricular septal defect, Nasogastric tube feeding in... ORPHA:1708
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Aortic root aneurysm, Vesicoureteral refl... OMIM:616580
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Coarctation of aorta, Abnormal aortic morphology, Subvalvular aorti... ORPHA:1052
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, ... ORPHA:35687
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nasogastric tube feeding in infancy, Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Cholangitis, Splenomegaly, Cervical lymp... ORPHA:3260
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Williams-Beuren Syndrome
Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,... OMIM:194050
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Abnormal cardiac septum morph... ORPHA:90652
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... ORPHA:1340
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Feeding difficulties, Chronic constipation, At... ORPHA:505237
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... ORPHA:90291
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal heart morphology, Tota... ORPHA:487796
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Fanconi Anemia, Complementation Group I
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Red ur... OMIM:263700
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules OMIM:139090
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Abnormality of the pancreas, Splenomeg... OMIM:222470
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Feeding difficultie... ORPHA:404440
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Short stature ORPHA:1791
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... ORPHA:818
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... ORPHA:90041
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Short stature ORPHA:2505
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal... ORPHA:1606
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Acromelic Frontonasal Dysostosis
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Hyp... OMIM:603671
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Patent ductus arteriosus, Decreased circulating total IgM, Decreased circulating ... OMIM:607143
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Splenomegaly, ... ORPHA:79277
Monosomy 18P
Microphthalmia, Short stature ORPHA:1598
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis OMIM:615926
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Feedin... OMIM:614609
Lissencephaly 9 With Complex Brainstem Malformation
Feeding difficulties, Ventricular septal defect, Dysphagia OMIM:618325
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Ventricular septal defect, Patent ductus arteriosus, Doubl... ORPHA:163956
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Patent ductus arte... ORPHA:96167
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis OMIM:115150
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:2728
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect, Nasogastric tube feeding ORPHA:3078
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Bladder diverticul... ORPHA:536545
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Polycystic ovaries ORPHA:137675
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... OMIM:612852
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Cerebrocostomandibular Syndrome
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst... OMIM:117650
Trisomy 18
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Abnormality of the upper urinary... ORPHA:3380
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Coarctation o... OMIM:617602
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature OMIM:617883
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coro... OMIM:614294
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Renal hypoplasia/aplas... ORPHA:2538
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, ... ORPHA:1775
Chand Syndrome
Atelectasis, Hydroureter ORPHA:1401
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... ORPHA:98870
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Hydronephrosis, Unilateral renal agenesis, Single ventricle OMIM:308050
Dubowitz Syndrome
Aplastic anemia, Cryptorchidism, Acute lymphoblastic leukemia, Decreased circulating IgG level, D... OMIM:223370
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Kabuki Syndrome 1
Crossed fused renal ectopia, Ventricular septal defect, Micropenis, Coarctation of aorta, Atrial ... OMIM:147920
Hunter-Macdonald Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse OMIM:611962
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Hydrops fetalis, Uterus didelphys, C... ORPHA:93271
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... OMIM:619522
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Gastroesophageal reflux, Ventricular septal defect, Feeding difficul... OMIM:617164
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Microphthalmia, Short stature OMIM:615663
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent... ORPHA:709
Glucagonoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97280
Hepatoerythropoietic Porphyria
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic flu... ORPHA:95159
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef... ORPHA:2729
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Fryns Syndrome
Ureteral duplication, Hypospadias, Ventricular septal defect, Renal agenesis, Renal cyst, Atrial ... OMIM:229850
Vipoma
Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, Episodic abdomin... ORPHA:97282
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Feeding difficulties, Constipation, Gastroesophageal reflux, Camptodac... OMIM:617360
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... ORPHA:373
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis ORPHA:1908
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation OMIM:206920
Somatostatinoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97283
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Death in infancy, Ventricular septal defect, Eosinophilia, Shoulder muscle h... OMIM:274000
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl... OMIM:616975
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:248700
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Encopresis... OMIM:616682
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Congenital diaphrag... OMIM:616777
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Flexion contracture, Reticulocytopenia, Anemia, Bone mar... OMIM:227645
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Thrombocytopenia, I... ORPHA:797
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Stroke OMIM:615812
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Ileal Neuroendocrine Tumor
Hydronephrosis, Tricuspid stenosis, Pulmonic stenosis ORPHA:100078
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,... ORPHA:2750
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Eosinophilic infiltration of ... OMIM:615582
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Poly... ORPHA:1335
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Feeding difficult... ORPHA:79345
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Patent fo... OMIM:617137
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, In... ORPHA:261250
Mowat-Wilson Syndrome
Hypospadias, Ventricular septal defect, Abnormality of the kidney, Pulmonary artery sling, Patent... OMIM:235730
Pachydermoperiostosis
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption, Splenomegaly, Anemia ORPHA:2796
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... ORPHA:363700
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Feeding difficulties, Macroglossia, Gastroes... OMIM:613457
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature OMIM:617306
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect OMIM:610832
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction, Carotid artery tortuosity OMIM:304150
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Microsporidiosis
Brain abscess, Cholangitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract ... ORPHA:2552
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Pat... OMIM:616268
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis OMIM:616298
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Premature birth, Ventricular septal defect, Polyhydramnios, Hypospa... OMIM:216340
Cornelia De Lange Syndrome 1
Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, V... OMIM:122470
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopu... OMIM:620025
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... ORPHA:565612
Radio-Tartaglia Syndrome
Gastroesophageal reflux, Constipation, Ventricular septal defect, Dysphagia OMIM:619312
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Chronic diarrhea, Cor pulmonale, Melena, Corneal neovascularization OMIM:158310
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... OMIM:154700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Dandy-Walker malformation, Agyria, Cryptorchidism, Meningoencephalocele,... OMIM:236670
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... ORPHA:892
Temtamy Syndrome
Microphthalmia OMIM:218340
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Gastroesophageal ref... OMIM:301043
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding diff... OMIM:618268
Ppoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97278
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Menkes Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy,... ORPHA:565
Familial Mediterranean Fever
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic sy... ORPHA:342
Classic Homocystinuria
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... ORPHA:394
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Feeding difficul... OMIM:614653
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteri... OMIM:616894
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Codas Syndrome
Ventricular septal defect ORPHA:1458
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Feeding difficulties in infancy, Episodic vomit... OMIM:618748
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, F... OMIM:300998
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Reynolds Syndrome
Gastrointestinal hemorrhage, Calcinosis, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... OMIM:613471
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... OMIM:609049
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Kawasaki Disease
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis ORPHA:2331
Grfoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97261
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:881
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Feeding difficulties in inf... ORPHA:1199
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Feeding difficulties OMIM:620073
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis ORPHA:847
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Abdominal distent... ORPHA:436252
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Intestinal malrotation, Congenital diaphrag... OMIM:222448
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Feeding difficulties in infancy, Esophageal atresia, Ventricular septal defect OMIM:610536
Frontorhiny
Encephalocele, Cranium bifidum occultum, Microphthalmia, Basal encephalocele ORPHA:391474
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Bowel incontinence, Pyl... ORPHA:261330
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... ORPHA:217085
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Chordee, Bicuspid aortic valve, Hypospadias OMIM:176690
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... OMIM:607872
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Alagille Syndrome
Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Periph... ORPHA:52
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Patent ductus arteriosus, Annular pancreas OMIM:618162
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep... ORPHA:96334
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... ORPHA:217093
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Atrial septal defect, Micropenis, Hydronephrosis OMIM:269150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Renal hypoplasia, Renal cyst OMIM:616300
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins OMIM:610682
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation OMIM:613451
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Ventricular septal defect, Death in adolescence, Gastroesophageal reflux, Co... OMIM:619229
Coffin-Siris Syndrome 1
Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Patent ductus arteriosus, Re... OMIM:135900
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Feeding difficulties, Gastroesophageal reflux... ORPHA:261236
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Bohring-Opitz Syndrome
Ventricular septal defect, Intestinal malrotation, Flexion contracture, Feeding difficulties, Gas... OMIM:605039
Immunoglobulin A Vasculitis
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Vasculitis, Gastroint... ORPHA:761
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Knobloch Syndrome 1
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... OMIM:267750
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel... ORPHA:261552
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... OMIM:112200
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Urinary... ORPHA:261537
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature OMIM:612530
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Multicystic kidney dysplasia, Patent ductus arteriosus, Ventricular septal ... OMIM:300373
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly, Short stature OMIM:619148
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Simplified gyral pattern, Decreased circulating antibody level, ... OMIM:617062
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Chalazion OMIM:613355
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Abnormality of... ORPHA:821
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature OMIM:618571
Joubert Syndrome 21
Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Ptosis OMIM:615636
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:2714
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Feeding difficulties ORPHA:217346
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology ORPHA:1826
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent ductus arteriosu... OMIM:612289
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Hypospadias, Patent ductus arteriosus, Multiple renal... ORPHA:955
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased fertil... OMIM:269700
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
Familial Thrombocytosis
Peripheral arterial stenosis, Transient ischemic attack ORPHA:71493
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect ORPHA:1393
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastroesophageal reflux, Atrial se... OMIM:619488
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Bicuspid aortic valve, Urinary incontinence, Hypospadias, Abnormali... ORPHA:2152
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Hepatosplenomegaly, Prol... ORPHA:247598
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Cohen Syndrome
Neutropenia, Feeding difficulties in infancy, Ventricular septal defect, Mitral valve prolapse ORPHA:193
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... ORPHA:857
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:580
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula... OMIM:163950
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Abnormal heart morphology, M... ORPHA:798
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased fertility in females, Splenomeg... OMIM:608594
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Hematuria, Dilatation of the cereb... OMIM:619475
Refsum Disease
Microphthalmia ORPHA:773
Neuroocular Syndrome
Thick eyebrow, Remnants of the hyaloid vascular system, Highly arched eyebrow, Lagophthalmos, Syn... OMIM:619539
Fanconi Anemia, Complementation Group F
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:603467
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney di... OMIM:218330
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse, Atrial septal defect, Hydron... OMIM:601776
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, F... ORPHA:1465
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Intracranial hemorrhage, Prolong... ORPHA:90062
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hydrops fetal... ORPHA:51608
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu... OMIM:301030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Galloway-Mowat Syndrome 3
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:617729
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Atypical Werner Syndrome
Premature arteriosclerosis, Renal neoplasm, Prominent superficial veins, Abnormal cerebral vascul... ORPHA:79474
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... OMIM:139210
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteri... ORPHA:261337
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Cousin Syndrome
Hydronephrosis OMIM:260660
Martsolf Syndrome 1
Microphthalmia, Short stature OMIM:212720
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Ventricular septal defect OMIM:619306
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Scleromyxedema
Paraproteinemia ORPHA:167635
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Feeding difficultie... ORPHA:3047
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Dubowitz Syndrome
Hypospadias, Hydronephrosis ORPHA:235
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Marshall-Smith Syndrome
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Premature ventricular cont... OMIM:602535
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Intestinal malrotation, Feeding difficulties in infancy, Coarctation o... OMIM:244450
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Hypospadias, Abnormal heart valve morphology, Arterial dissecti... ORPHA:286
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation OMIM:251300
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Ebstein anomaly of the tricuspid valve, Patent foramen ovale,... ORPHA:506358
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Ventricular septal defect, Hydronephrosis, Hypospadias OMIM:236680
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... OMIM:107480
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal hyp... OMIM:261540
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Epicanthus, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Downslanted palpebral... OMIM:617088
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:618019
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... ORPHA:2162
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... OMIM:175200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture OMIM:225400
Keutel Syndrome
Ventricular septal defect, Miscarriage, Hypertension, Pulmonary artery hypoplasia, Pulmonic steno... OMIM:245150
Opitz Gbbb Syndrome
Rectourethral fistula, Gastroesophageal reflux, Ventricular septal defect, Dysphagia OMIM:300000
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Aplasia of the pectoralis m... ORPHA:3138
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Genitopatellar Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Micropenis, Hydron... OMIM:606170
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis ORPHA:488632
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Hypospadias, Hydronephrosis, Dilatation of the sinus of Valsalva OMIM:304120
Orofaciodigital Syndrome V
Aganglionic megacolon, Tetralogy of Fallot, Ventricular septal defect, Feeding difficulties OMIM:174300
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Transposition of the great arter... OMIM:256520
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... ORPHA:1519
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... ORPHA:2785
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... OMIM:266920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial ... ORPHA:480880
Johanson-Blizzard Syndrome
Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Situs inversus totalis, Dilated c... OMIM:243800
Postinfectious Vasculitis
Viral hepatitis, Increased circulating IgA level, Orchitis, Abnormality of humoral immunity, Incr... ORPHA:48435
Blau Syndrome
Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morphology, Anemia ORPHA:90340
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:364577
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Ventricular septal defect ORPHA:251028
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Limb hypertonia OMIM:609460
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent urinary tract infections, Hypospadias, Congenital malformation o... ORPHA:3455
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Increased mean corpuscular hemoglobin con... ORPHA:33364
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Codas Syndrome
Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A... OMIM:600373
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Feeding difficulties in infancy, Patent ductus a... OMIM:617140
Incontinentia Pigmenti
Microphthalmia, Umbilical hernia, Spina bifida occulta, Short stature ORPHA:464
Jacobsen Syndrome
Ventricular septal defect, Pyloric stenosis, Flexion contracture, Atrial septal defect, Thrombocy... OMIM:147791
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve OMIM:271640
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Campomelic Dysplasia
Hypospadias, Hydronephrosis, Abnormal heart morphology OMIM:114290
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus ... OMIM:154400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Feeding difficulties, Pulmonic stenosis, Atrial ... OMIM:607721
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous malformation, P... OMIM:150230
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve OMIM:613563
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis ORPHA:2363
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature, Spina bifida OMIM:234100
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:614083
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature OMIM:600901
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
Mosaic Trisomy 20
Abnormal mitral valve morphology, Chronic constipation, Dysplastic tricuspid valve, Ventricular s... ORPHA:1724
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Umbilical hernia, Microphthalmia ORPHA:2166
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Duodenal stenosis... OMIM:617063
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Gastrointestina... OMIM:612199
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Momo Syndrome
Bilateral microphthalmos, Short stature ORPHA:2563
Fanconi Anemia, Complementation Group A
Microphthalmia, Short stature OMIM:227650
Trichinellosis
Increased circulating IgE level ORPHA:863
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
2Q31.1 Microdeletion Syndrome
Microphthalmia, Short stature ORPHA:251014
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect ORPHA:769
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Hydronephrosis OMIM:620330
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Plague
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, En... ORPHA:707
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... ORPHA:93325
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Transient ischemic attack, ... ORPHA:740
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology ORPHA:171929
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature OMIM:201180
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Short stature OMIM:308300
Cherubism
Submandibular lymph node enlargement OMIM:118400
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea OMIM:229600
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Pyloric stenosis, Achilles tendon contracture, Mitra... OMIM:218040
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, V... OMIM:619525
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, Varicose vein... ORPHA:2072
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Nasogastric... ORPHA:268261
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Fanconi Anemia
Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Microphthalmia, Umbili... ORPHA:84
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Death in childh... OMIM:309500
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra... OMIM:133540
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Limb Body Wall Complex
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... ORPHA:2369
Diets-Jongmans Syndrome
Feeding difficulties in infancy, Ventricular septal defect, Congenital diaphragmatic hernia, Duod... OMIM:618846
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia, Growth delay OMIM:613884
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Microphthalmia ORPHA:861
Neurofibromatosis Type 1
Arterial stenosis, Abnormality of the upper urinary tract ORPHA:636
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly OMIM:616145
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610829
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Lower... ORPHA:459070
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation OMIM:620186
Cysticercosis
Increased circulating antibody level ORPHA:1560
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect, Gastrostomy tube feeding in infancy ORPHA:434179
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Isolated Arrhinia
Microphthalmia ORPHA:1134
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Short stature OMIM:268400
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Fanconi Anemia, Complementation Group D2
Microphthalmia, Short stature OMIM:227646
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract ORPHA:2273
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Severe short stature, Anophthalmia ORPHA:2526
Holoprosencephaly 7
Microphthalmia, Occipital meningocele, Bilateral microphthalmos OMIM:610828
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level ORPHA:3385
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system ORPHA:637
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Microphthalmia With Limb Anomalies
Microphthalmia, Short stature, True anophthalmia ORPHA:1106
Aicardi Syndrome
Microphthalmia, Delayed puberty ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... ORPHA:468631
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... ORPHA:261584
Mend Syndrome
Microphthalmia, Short stature ORPHA:401973
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation OMIM:608670
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Patent ductus arteriosus after birth at term, Simplified gyral pattern, Secre... ORPHA:500150
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ... ORPHA:199
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia ORPHA:191
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Steinfeld Syndrome
Microphthalmia OMIM:184705
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr... ORPHA:652
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Cryptorchidism, Optic atrophy, Erect... ORPHA:649
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Fraser Syndrome 2
Microphthalmia OMIM:617666
Pallister-Killian Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Coarctation of aort... OMIM:601803
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Microphthalmia, Umbilical hernia ORPHA:2052
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Short stature OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Malrotation of small bowel, G... OMIM:194190
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... OMIM:157170
Monosomy 9P
Microphthalmia ORPHA:261112
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Atrial sept... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:613406
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal arthrogryposis,... ORPHA:672
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Branchiooculofacial Syndrome
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... OMIM:113620
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Microphthalmia, Short stature OMIM:309000
Ulnar-Mammary Syndrome
Elbow flexion contracture, Pyloric stenosis, Arrhythmia, Ventricular septal defect OMIM:181450
Holoprosencephaly 1
Microphthalmia, Short stature OMIM:236100
Microphthalmia, Syndromic 1
Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia OMIM:309800
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Neurofibroma
Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Pmm2-Cdg
Pericarditis, Proteinuria, Pericardial effusion, Intracranial hemorrhage, Nephrotic syndrome, Mul... ORPHA:79318
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500

Histopathology

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

There is no histopathology data for Cxcr4

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 Cxcr4.

No publications found that use IMPC mice or data for Cxcr4.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cxcr4tm374833(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cxcr4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cxcr4em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Cxcr4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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