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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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
edema Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Cxcr4em1(IMPC)Mbp HET Early adult 0.00
cataract Cxcr4em1(IMPC)Mbp HET Early adult 7.52×10-05
abnormal skin morphology Cxcr4em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta size Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
abnormal eyelid morphology Cxcr4em1(IMPC)Mbp HET Early adult 3.31×10-05
abnormal kidney morphology Cxcr4em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta size Cxcr4em1(IMPC)Mbp HET E15.5 0.00
enlarged spleen Cxcr4em1(IMPC)Mbp HET Early adult 0.00
abnormal limb morphology Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Cxcr4em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Cxcr4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal spleen morphology Cxcr4em1(IMPC)Mbp HET Early adult 0.00
increased lymphocyte cell number Cxcr4em1(IMPC)Mbp HET Early adult 7.93×10-05
decreased circulating creatinine level Cxcr4em1(IMPC)Mbp HET Early adult 6.83×10-06
abnormal placenta morphology Cxcr4em1(IMPC)Mbp HET E15.5 0.00
persistence of hyaloid vascular system Cxcr4em1(IMPC)Mbp HET Early adult 2.30×10-09
abnormal vitreous body morphology Cxcr4em1(IMPC)Mbp HET Early adult 7.12×10-05
enlarged testis Cxcr4em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Cxcr4em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Cxcr4em1(IMPC)Mbp HOM E15.5 0.00
increased monocyte cell number Cxcr4em1(IMPC)Mbp HET   Early adult 1.34×10-06
increased leukocyte cell number Cxcr4em1(IMPC)Mbp HET Early adult 2.14×10-05
abnormal testis morphology Cxcr4em1(IMPC)Mbp HET Early adult 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.

Gross Morphology Embryo E14.5-E15.5

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10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

37 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
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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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 IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Whim Syndrome
Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, L... 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, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Follicular hyperp... OMIM:615559
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency 102
Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Partial absence of speci... OMIM:301082
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Megabladder, Congenital
Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non... OMIM:618719
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... OMIM:209950
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:603909
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... ORPHA:169154
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infection, Increased ... ORPHA:98813
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... ORPHA:277
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ... OMIM:616050
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Congenital Aortic Valve Stenosis
Aortic valve atresia, Dysplastic aortic valve, Aortic valve stenosis, Left ventricular hypertroph... ORPHA:3093
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopen... ORPHA:83313
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko... OMIM:615285
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal... OMIM:173900
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... ORPHA:331206
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr... ORPHA:295
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L... OMIM:617099
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Nephronophthisis 14
Situs inversus totalis, Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Perimembranous ventricular septal defect, Protein... OMIM:608104
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:242860
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... OMIM:620210
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Cholestatic liver disease, Jaundice, Anemia, Hemopha... ORPHA:540
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Splenomegaly... OMIM:619462
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly ORPHA:100025
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus... OMIM:615996
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Sclerosing cholangitis, Increased circulating IgG level, Increas... OMIM:243700
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal... ORPHA:1909
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis, Anemia OMIM:236750
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... OMIM:619644
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Death in infancy, Nonimmune hydrops fetalis, S... OMIM:608540
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... OMIM:608233
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Increased circulating IgA level, Paratracheal lymphadeno... OMIM:615934
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ... OMIM:608184
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,... ORPHA:1166
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le... OMIM:620603
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen... OMIM:226990
Distal Duplication 14Q
Abnormal aortic morphology, Abnormality of the upper urinary tract, Patent ductus arteriosus ORPHA:1705
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphology, Tetra... ORPHA:95430
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis OMIM:616871
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:169160
Microphthalmia, Syndromic 9
Renal malrotation, Right aortic arch with mirror image branching, Hypoplastic left atrium, Pelvic... OMIM:601186
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Micropenis, Duplicated collecting system OMIM:620071
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Death in childhood, Hydrocephalus, Vacuolated lymphocytes, Ascites, Premature bi... OMIM:269920
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao... OMIM:301111
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Hypospadias, Fetal akinesia sequence, Hypertrophic cardiomyopathy, Death in infa... OMIM:618815
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Abnormal heart m... ORPHA:314588
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis OMIM:185500
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Transaldolase Deficiency
Hydrops fetalis, Abnormal clitoris morphology, Anemia, Thrombocytopenia, Hepatosplenomegaly, Edem... ORPHA:101028
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Tri... ORPHA:391641
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Nephrotic syndrome, Abnormal mitral valve morphology, Proteinuri... ORPHA:1192
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Tularemia
Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal lymphadenopat... ORPHA:3392
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Cerebellar dy... OMIM:604213
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Abnormal nat... ORPHA:79124
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating... OMIM:617388
Spinal Muscular Atrophy, Type I
Death in childhood, Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricul... OMIM:253300
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Blepharophimosis, Narrow palpebral fissure, Macroorchidism OMIM:300238
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Telecanth... OMIM:617303
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Acute Interstitial Pneumonia
Ground-glass opacification, Reduced hematocrit, Atelectasis, Hypertension, Pleural effusion, Pare... ORPHA:79126
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux OMIM:611376
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Hydronephrosis, Bicuspid aortic valve, Ventri... OMIM:620511
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Anemia, Hydrops fetalis, Hydrocephalus, Pericarditis, Splenomegaly, Abnormal hemo... ORPHA:163596
Paget Disease Of Bone 6
Nephrocalcinosis, Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Diabetic Embryopathy
Transposition of the great arteries, Renal hypoplasia/aplasia, Ureteral duplication, Abnormal aor... ORPHA:1926
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Horsesho... OMIM:614846
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Tetralogy of Fallot... ORPHA:1727
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Abnormality of neuronal migration, Hydrops fetalis, Splenomegaly ORPHA:2204
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating... ORPHA:158061
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Anemia, Abnormal vagina morphology, Ascites, Premature birth, Th... ORPHA:2123
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Aortic aneurysm, Multiple muscular ventricular septal defects, Pericardial ... OMIM:620070
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:613885
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce... ORPHA:381
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion... OMIM:619381
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Pancytopenia, Death in infancy, Neonatal death, Thrombocytopenia, Ab... ORPHA:85212
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Ritscher-Schinzel Syndrome 1
Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl... OMIM:220210
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Death in adolescence, Hydrocele testis, Fetal pericardial effusion, N... OMIM:620014
Trisomy 17P
Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis... ORPHA:261290
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Abnormal... ORPHA:1354
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level... OMIM:304790
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Sclerosing cholangitis, Neut... ORPHA:572
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Anemia, Abnormal tricuspid valve morphology, Hydrops fet... ORPHA:3405
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
17Q11.2 Microduplication Syndrome
Sparse eyelashes, Sparse eyebrow, Macroorchidism ORPHA:139474
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dilatation of the cerebral artery OMIM:174050
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... OMIM:115197
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
Situs inversus totalis, Dextrocardia, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Macroorchidism, Synophrys OMIM:300143
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating antibody leve... ORPHA:449432
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Inter... ORPHA:90308
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El... OMIM:617056
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Death in childhood, Impaired ... OMIM:243150
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu... ORPHA:766
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra... ORPHA:730
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Generalized lymphadenopathy, Lymphadenopathy, Pancytopenia, Decrease... OMIM:614700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Aortic valve atresia, Bilateral superior vena cava, Hypertrophic cardiomyopathy, Lef... OMIM:220111
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H... OMIM:232220
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
H Syndrome
Corneal arcus, Hypertriglyceridemia, Enlarged kidney, Abnormality of the kidney, Lymphadenopathy,... ORPHA:168569
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
C1Q Deficiency 2
Anemia, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the skin, Bronch... OMIM:620321
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Death in childhood, Ventricular septal defect, Pulmonary artery atresia OMIM:613759
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
X-Linked Intellectual Disability, Shashi Type
Blepharophimosis, Palpebral edema, Macroorchidism ORPHA:85286
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p... OMIM:301045
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Ascites, Sideroblastic anem... OMIM:617021
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis OMIM:613124
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r... OMIM:179613
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Pleural e... ORPHA:2902
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Polymicrogyria OMIM:618973
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Dysphagia, Patent ductus arteriosus, Ventricular septal... OMIM:616276
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic d... OMIM:619825
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Intramuscular hematoma,... ORPHA:465
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary ... OMIM:612541
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Hydronephrosis, Te... ORPHA:210122
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy OMIM:619003
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re... OMIM:611773
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Cardiomyopathy, Death in infancy, Neonatal death, Nonimmune hydrops fetalis, Premature bi... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypertrophic cardiomyopathy, Death in infancy, Premature birth, Nonimmune hydrops fetalis... OMIM:618835
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Neuraminidase Deficiency
Hydrops fetalis, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenom... OMIM:256550
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... ORPHA:402075
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Achondrogenesis, Type Ib
Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis, Edema OMIM:600972
Autoimmune Hepatitis
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ... ORPHA:2137
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Feeding diffic... OMIM:618205
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Thrombocytopenia, Sp... OMIM:617591
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Aortic va... OMIM:208540
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphol... ORPHA:292
Intellectual Developmental Disorder, Autosomal Recessive 73
Poor suck, Ventricular septal defect, Feeding difficulties, Patent ductus arteriosus OMIM:619717
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Feeding difficulties in infancy, Death in infancy OMIM:614876
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Elevat... OMIM:617872
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Grange Syndrome
Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Bicuspid aortic valve... OMIM:602531
Chondrodysplasia, Blomstrand Type
Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth, Fetal ascites OMIM:215045
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hydrops fetalis, Anemia, Pleural effusion, Reticulocytosis... ORPHA:846
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital throm... OMIM:616738
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Death in infancy, Pulmonic stenosis OMIM:619433
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology, Cryptorchidism OMIM:616910
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Abnormal pulmonary thoracic imaging finding, Transient pul... ORPHA:70588
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Coarctation of aorta, Abnormal... OMIM:618494
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Premature birth, P... ORPHA:60041
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Cardiomega... OMIM:608836
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria OMIM:230200
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial... ORPHA:85450
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Hypospadias, Pleural effusion, Ascites,... OMIM:616897
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular failure ORPHA:70589
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Nanophthalmos
Microphthalmia ORPHA:35612
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Normocytic anemia, Aortic regurgitation,... ORPHA:99147
Partington Syndrome
Macroorchidism ORPHA:94083
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Cervical lymphadenopathy, Increased circulatin... OMIM:620514
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Pulmonary hypoplasia, Fetal pyelectasis, Cere... OMIM:616531
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Giant platelets, Gingival bleeding, Meno... OMIM:231200
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Hyper-Igd Syndrome
Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat... OMIM:260920
Hydrops Fetalis
Polyhydramnios, Miscarriage, Lymphedema, Pleural effusion, Ascites, Twin-to-twin transfusion, Gen... ORPHA:1041
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Cerebellar atrophy, Ascites, Fetal skin edema, Pericardial effusion, Splenomegal... OMIM:608776
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Trisomy 20P
Abnormality of the kidney, Hypospadias, Highly arched eyebrow, Blepharophimosis, Abnormality of t... ORPHA:261318
Ataxia-Telangiectasia
Decreased circulating antibody level, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia... ORPHA:100
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma... ORPHA:562
Clark-Baraitser syndrome
Downslanted palpebral fissures, Macroorchidism OMIM:300602
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Morm Syndrome
Cataract, Abnormality of the kidney, Retinal atrophy, Micropenis ORPHA:75858
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma, Epicanthus ORPHA:2489
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Aortic valve stenosis, Menorrhagia,... OMIM:193400
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Reduced antigen-specific T cell proliferation, Eo... OMIM:616433
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Precocious atherosclerosis, Skeletal muscle atrophy, Mitral valve pr... ORPHA:230839
Nanophthalmos 4
Microphthalmia OMIM:615972
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia, Simplified gyral p... OMIM:615966
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG lev... ORPHA:1304
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Sialidosis Type 2
Ascites, Hydrops fetalis, Splenomegaly, Pedal edema ORPHA:87876
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Decreased circulating complement C3 concentration ORPHA:79087
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst... ORPHA:449395
Papillorenal Syndrome
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal malrotation,... OMIM:120330
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Hydrocephalus, Ventricular septal defect, Increased nuchal trans... ORPHA:261344
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Cryoglobulinemia, Splenomegaly, Monoclonal immu... ORPHA:33226
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis, Diffuse cerebellar atrophy ORPHA:477774
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:618523
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar... ORPHA:980
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Anemia, Telecanthus, Long eyelashes, Nephrotic syndrome, Bone mar... ORPHA:505248
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ... ORPHA:1572
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Xp22.13P22.2 Duplication Syndrome
Downslanted palpebral fissures, Polycystic ovaries, Macroorchidism ORPHA:284180
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Intestinal malrotation, Neonatal death,... OMIM:615524
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Microcytic anemia OMIM:619750
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Death in childhood, Feeding difficulties OMIM:620368
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Hypospadias, Patent ductus arteriosus, Atrial septal de... OMIM:158170
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Mele... ORPHA:79076
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co... ORPHA:488618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Death in childhood, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Typ... OMIM:613153
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Epicanthus, Hepatic fibrosis, Pan... OMIM:200995
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Death in childhood, Gingival bleeding, Death... OMIM:202400
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma... ORPHA:2473
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Arterial Calcification, Generalized, Of Infancy, 1
Renal artery stenosis, Generalized arterial calcification, Carotid artery calcification, Arterial... OMIM:208000
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Hypospadias, Glandular hypospadias, Death in infancy, Neonatal death, Penile hypospa... OMIM:300219
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Hepatic calcif... OMIM:620376
Relapsing Fever
Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating C-reactive protein concent... ORPHA:91547
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, In... ORPHA:562639
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Respiratory tr... ORPHA:70587
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... OMIM:208900
Sotos Syndrome
Abnormality of the kidney, Muscular ventricular septal defect, Patent ductus arteriosus, Atrial s... OMIM:117550
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hypospadias, Hydrops fetalis, Anemia of inadequate production, Persis... OMIM:613673
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... OMIM:300972
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c... ORPHA:477817
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Renal insufficiency ORPHA:3222
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation OMIM:618838
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis, Atrial septal defect, Ventricular septal defect, Peripheral pulmon... OMIM:613001
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Sparse eyelashes, Sparse eyebrow, Macroorchidism, Iris coloboma OMIM:618874
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal mitral valve morphology, Meno... ORPHA:903
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Coccidioidomycosis
Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Gran... ORPHA:228123
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Pa... ORPHA:84064
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione... OMIM:618660
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena... OMIM:306955
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology, Hypospadias ORPHA:1923
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Abnormality of the hepatic vasculature, Thrombocy... ORPHA:275555
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Ptosis, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Isolated Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Ptosis, Cho... ORPHA:1473
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Hemolytic-uremic syndrome, Reduced haptoglobin level, Schistocytosis, Moderate proteinuri... OMIM:301110
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Male hypogonadism, Macroorchidism OMIM:300055
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia... OMIM:314390
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... ORPHA:363705
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Muscular ventricular septal defect, Unilateral renal agenesis OMIM:619227
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Car... ORPHA:91387
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Death in childhood, Cerebellar vermis hypoplasia, Cerebellar atr... OMIM:212065
Nemaline Myopathy 9
Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Increased circulating antibody ... ORPHA:400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Coarctation of aorta, Patent duc... ORPHA:1120
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Abnormal gastrointestinal tr... ORPHA:464321
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Gas... OMIM:608779
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Ascites, Hepatosplenomegaly, Decreased fetal mov... OMIM:232500
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic val... OMIM:620067
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Vascular dilatation, Hyperechogenic kidneys, Ventricular septal defec... OMIM:219730
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Parenchymal consolidation, Elevated bronchoalveolar lava... OMIM:610978
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Pelvic kidn... ORPHA:508498
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Epicanthus... ORPHA:2377
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Vascular dilatation, Abnormal ... ORPHA:3287
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Coach Syndrome 2
Elevated circulating creatinine concentration, Portal fibrosis, Coloboma, Congenital hepatic fibr... OMIM:619111
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... ORPHA:8
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyop... OMIM:230500
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia ORPHA:858
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Abnormal heart morphology, Hydronephrosis, Renal cyst OMIM:613390
Mulibrey Nanism
Hydrops fetalis, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Intrauteri... OMIM:253250
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Death in childhood, Ga... OMIM:618651
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Trisomy 13
Hydrops fetalis, Intrauterine growth retardation, Cryptorchidism, Displacement of the urethral me... ORPHA:3378
Polyembryoma
Isosexual precocious puberty, Abnormal peritoneum morphology, Abdominal mass, Elevated circulatin... ORPHA:180229
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Abnormal platelet... OMIM:273800
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Hydroureter OMIM:616559
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Increased c... ORPHA:449427
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration... OMIM:614376
Mosaic Trisomy 9
Single umbilical artery, Hypoplastic female external genitalia, Hydrops fetalis, Polyhydramnios, ... ORPHA:99776
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Increased circulating iron concentration, Splenomegaly, Hypogona... OMIM:613313
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology, Renal agenesis, Ventric... ORPHA:2516
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Increased circulat... ORPHA:79078
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:77259
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Long-Olsen-Distelmaier Syndrome
Death in childhood, Polymicrogyria, Secundum atrial septal defect, Nonimmune hydrops fetalis, Pac... OMIM:620609
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Anemia, Intramuscular hematoma... ORPHA:169802
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Feeding difficulties OMIM:614249
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Alg8-Cdg
Hydrops fetalis, Anemia, Ascites, Premature birth, Thrombocytopenia, Edema, Oligohydramnios, Intr... ORPHA:79325
Li-Campeau Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:619189
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Phaver Syndrome
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia, Pulmonary infiltrates OMIM:131400
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Hoxha-Aliu Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Hydronephrosis, Vesicoureteral re... OMIM:620662
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Hydrocele testis OMIM:605309
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Astigmatism, Chronic neutropenia, Retinal coloboma, Nephroblastoma, Long palpebr... ORPHA:500095
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Hydrocephalus, Asplenia, Respiratory tract infection, Recu... ORPHA:244
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Anemia, Papilledema, Elevated circulating creatinin... OMIM:620366
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fi... ORPHA:79259
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen... ORPHA:319218
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Anemia, Hemolytic-... OMIM:612925
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge... OMIM:137560
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Patent ductus arte... OMIM:606232
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Aortic v... ORPHA:353281
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Whim Syndrome
Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, L... ORPHA:51636
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Tafro Syndrome
Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Lymphadenopathy, Leukocy... ORPHA:457077
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D... OMIM:275350
Icf Syndrome
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H... OMIM:232200
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anemia, Abdominal pain, Bloody diarrhea, Episodic abdomin... ORPHA:209964
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaundice, Thromboc... OMIM:170100
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor... OMIM:300291
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Muscular ventricular septal defect, Hypoplasia of penis, Dilated car... ORPHA:66634
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Thrombocytopenia, Subcutan... OMIM:618462
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Cat Eye Syndrome
Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return, Pulmonic steno... OMIM:115470
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6 concentration, Lymphadenopathy, Asplenia, Coomb... OMIM:614034
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Neutropenia, Bilateral cryptorchidism, Lymphopenia OMIM:616395
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Patent ductus arteriosus, Accessory spleen, Portal hypertension, Cryptorchidism, Decrease... OMIM:620005
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgD level,... OMIM:610377
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612926
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Intest... ORPHA:85446
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Protein... ORPHA:251004
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil... ORPHA:186
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Lymphadenopathy, D... ORPHA:331235
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Hypoplasia of pe... ORPHA:7
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612924
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis, Atrial se... OMIM:614262
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, C... ORPHA:157
Coronary Arterial Fistula
Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o... ORPHA:2041
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Anemia, Diarr... ORPHA:2070
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal pleura morp... ORPHA:2357
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Fragile X Syndrome
Macroorchidism ORPHA:908
Lymphangioleiomyomatosis
Pneumothorax, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Emphysema, Atelectasis, Rec... ORPHA:538
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Flexion contracture, Patent ductus arteriosus, Tachycardia, ... OMIM:613870
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Atelectasis, Bradycardia, Hypotension, Leukocytosis, Microscopic hematuria,... ORPHA:319213
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Cardiomyopathy, Ethylmalonic aciduria, 3-Methylgl... ORPHA:26791
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe... OMIM:264800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly... ORPHA:79312
Al Amyloidosis
Abdominal distention, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Ane... ORPHA:85443
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Galactosuria, Increase... OMIM:230400
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Parotitis... ORPHA:99827
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Palpebral edema, Intrahepati... OMIM:214110
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ... OMIM:618282
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid ... ORPHA:500159
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Vesicoureteral... OMIM:157800
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus OMIM:619797
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Poor suck, Hypertrophic cardiomyopathy, Death in infancy, Feeding difficulties, Vent... OMIM:616277
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Astigmatism, Urinary incontinence, Iron deficiency anemi... OMIM:618885
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... ORPHA:329918
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Fryns Syndrome
Hypospadias, Abnormal aortic arch morphology, Vesicoureteral reflux, Abnormal aortic morphology, ... ORPHA:2059
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Gastroes... OMIM:301040
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Pulmona... ORPHA:261494
Ciliary Dyskinesia, Primary, 1
Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronchiectasis, Asplenia, Pneumonia OMIM:244400
Polymyositis
Anorexia, Abnormal atrioventricular conduction, Gastrointestinal hemorrhage, Congestive heart fai... ORPHA:732
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios, Cryptorchidism ORPHA:1263
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Joubert Syndrome 18
Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:614815
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal... OMIM:257200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo... OMIM:620233
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve, Patent ductus arteriosus OMIM:100100
Verheij Syndrome
Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Ventricular septal defect OMIM:615583
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Congestive heart failure, Diarrhea, Megaloblastic anemia, Cardiac arrest, Paroxysmal at... ORPHA:49827
Rift Valley Fever
Jaundice, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytope... ORPHA:319251
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Legionnaires Disease
Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ... ORPHA:549
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r... OMIM:265380
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Epicanthus, Ho... OMIM:608022
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia, 3-Methylglutaric aciduria OMIM:250951
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Hyperthreoninemia, Hyperthreoninuria, Cataract, Pig... OMIM:204000
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis ORPHA:26137
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypoce... OMIM:614742
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hematoma, Splenic rupture, Join... ORPHA:98878
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... OMIM:177850
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormal heart mor... ORPHA:2237
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells... OMIM:224120
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Mevalonic Aciduria
Cataract, Downslanted palpebral fissures, Splenomegaly ORPHA:29
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, Hypoplastic spleen, 4-layered lissencephaly ORPHA:89844
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Ptosis, Hypogonadism, Cataract ORPHA:1875
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Patent ductus arteriosus OMIM:617751
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Upslanted palpebral fissure, Hypergonadotropic hypo... OMIM:154230
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Feeding difficulties in infancy, Patent ductus a... OMIM:618974
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Pouchitis
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... ORPHA:217067
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Isovaleric Acidemia
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, St... ORPHA:2494
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus OMIM:620327
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Ptosi... OMIM:222300
Alg12-Cdg
Muscular ventricular septal defect, Hypospadias, Patent foramen ovale, Patent ductus arteriosus, ... ORPHA:79324
Vici Syndrome
Cutaneous anergy, Gray matter heterotopia, T lymphocytopenia, Decreased circulating IgG level, De... OMIM:242840
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Tuberous Sclerosis Complex
Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Polycystic kidney dysplasia, Ren... ORPHA:805
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Chronic kidne... ORPHA:3156
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Death in infancy, Exocrine pancreatic insufficiency, Malabsorption, Patent... ORPHA:452
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Congenital Disorder Of Glycosylation, Type Iiaa
Patent ductus arteriosus after premature birth, Ventricular septal defect, Unilateral renal agene... OMIM:620454
Pericardial And Diaphragmatic Defect
Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp... ORPHA:2847
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Telecanthus, Hypoplasia of penis, Pancytopenia, Renal dysplasia, Bifid scrotum, Renal hypoplasia,... ORPHA:85321
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1466
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased circulating IgG level, Increased circulating IgA le... ORPHA:2298
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Polyhydramnios, Anemia, Ascites, Neonatal death, Thrombocytopenia, Hepa... OMIM:608013
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Death in infancy, Left ventricular noncompaction cardiomyopathy, Fet... OMIM:620167
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:355
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Ogden Syndrome
Left atrial enlargement, Tube feeding, Premature ventricular contraction, Dysphagia, Cardiomegaly... OMIM:300855
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Pancreatic cysts, Aortic valve stenosis, Right... OMIM:267010
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Abnormal renal morphology, Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:329224
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Lymphatic Malformation 6
Facial edema, Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, ... OMIM:616843
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Trisomy X
Renal hypoplasia/aplasia, Atrial septal defect, Ventricular septal defect, Multicystic kidney dys... ORPHA:3375
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet ag... ORPHA:79329
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Intestinal malrotation, Abnormal heart morphology, ... ORPHA:401935
X-Linked Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocytopenia, Recurr... ORPHA:47
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Conjunctival hyperemia, Rena... OMIM:191900
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Wagr Syndrome
Ptosis, Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of... ORPHA:893
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Horseshoe kidney OMIM:619318
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism ORPHA:324410
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Cataract, Hypergonadotropic hypog... OMIM:614307
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... OMIM:194380
Floating-Harbor Syndrome
Mesocardia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Persistent left superior vena c... ORPHA:2044
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Hypoplasia of penis, Ventricular sep... ORPHA:3097
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Diffuse Alveolar Hemorrhage
Hematuria, Anemia, Leukocytosis, Thrombocytopenia, Proteinuria, Elevated circulating creatinine c... ORPHA:90060
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Abnormality of the pulmonary ar... ORPHA:290
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Abdominal pain, Diarrhea, Gingival bleeding, Hypotension,... ORPHA:99828
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter... ORPHA:90790
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Encephalocele, Hydrocephalus, Miscarriage, Abnormal hea... ORPHA:1865
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Fetal akinesia sequence, Hypoplasia of the thymus, Cardiomegaly, Overriding aort... OMIM:617022
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Intra... ORPHA:169805
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Penoscrotal... OMIM:618280
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo... OMIM:266200
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Hypospadias OMIM:300997
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus ORPHA:457193
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... ORPHA:853
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukoc... OMIM:615688
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Persistence of hemoglobin F, Feeding difficulties, Patent ductus arterio... OMIM:619769
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Abnormal bleeding, Malabsorption, Gastrointestinal hemorrhage ORPHA:79301
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number... OMIM:137920
Noonan Syndrome 12
Tetralogy of Fallot, Thrombocytopenia, Lymphopenia, Ventricular septal defect, Supravalvular aort... OMIM:618624
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Pulmo... OMIM:301056
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Thrombocyt... OMIM:249270
Distal Deletion 15Q
Hypospadias, Multicystic kidney dysplasia, Abnormal aortic arch morphology, Patent ductus arterio... ORPHA:1596
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Splenomegaly,... OMIM:616589
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stress urinary incontinence, Ischemic stroke, Stroke, Transient ischemic attack, Cerebral hemorrh... ORPHA:136
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j... OMIM:274150
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Tric... ORPHA:185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Cardiomyopathy, Cerebellar dysplasia, Cerebellar hyp... OMIM:613155
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Galactokinase Deficiency
Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic hypog... ORPHA:79237
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Mmep Syndrome
Microphthalmia ORPHA:3434
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Iga Pemphigus
Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula... ORPHA:555905
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Hypoplastic aortic arch, Abnormal cardiac ventricl... ORPHA:261311
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar ... ORPHA:101070
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Abnormal subclavian artery morphology, Hypospadias, Recurrent urinary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Abnormal subclavian artery morphology, Hypospadias, Recurrent urinary ... ORPHA:353277
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Ankyloblepharon, Small scrotu... OMIM:612651
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of the anterior... ORPHA:449563
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Valvular pulmonary stenosis, Pelvic kidney, Patent foramen ovale, Vesicoureteral ref... OMIM:300707
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Proteinuria, Cerebral artery atherosclero... OMIM:209010
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Cryptorchidism ORPHA:99812
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Hydronephrosis OMIM:620141
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Hypospadias, Patent foramen ovale, Aortic isthmus hypop... OMIM:180849
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Anemia, Elevated circulating creatinine concentration, Tubulointersti... OMIM:266900
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal aortic valve morphology, Hypospadias, Abnormal aortic arch morphology... ORPHA:567
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism OMIM:618188
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Crohn's disease, Enterocolitis, Hematochezia, Colitis OMIM:613148
Monosomy 18Q
Pulmonary valve defects, Dysplastic pulmonary valve, Aortic aneurysm, Absence of the pulmonary va... ORPHA:1600
Tangier Disease
Hypertriglyceridemia, Ectropion, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased... OMIM:205400
Alveolar Echinococcosis
Liver abscess, Anemia, Increased circulating antibody level, Jaundice, Cholangitis, Abnormal sple... ORPHA:284
Pontocerebellar Hypoplasia, Type 17
Gastroesophageal reflux, Limb hypertonia, Secundum atrial septal defect, Dysphagia, Patent ductus... OMIM:619909
Zygomycosis
Hematemesis, Myocarditis, Gastrointestinal hemorrhage, Pneumothorax, Atelectasis, Melena, Acute i... ORPHA:73263
Idiopathic Neonatal Atrial Flutter
Fetal distress, Hydrops fetalis ORPHA:45452
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hydronephrosis ORPHA:1780
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Pediatric Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Lymphadenopathy, Lymphopenia, Thrombocytopenia... ORPHA:93552
Noonan Syndrome 8
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Feeding difficulties, L... OMIM:615355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating antibody level, Abno... ORPHA:293978
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Increased circulating iron concentration, Splenomegaly, Inc... OMIM:602390
Hemochromatosis, Neonatal
Intrauterine growth retardation, Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Mirage Syndrome
Anemia, Patent ductus arteriosus, Decreased testicular size, Hypoplastic spleen, Thrombocytopenia... OMIM:617053
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Hydronephrosis OMIM:618950
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Patent ductus arteriosus, Ventricular septa... OMIM:102500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ... OMIM:267700
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Fumarase Deficiency
Perimembranous ventricular septal defect, Bilateral fetal pyelectasis, Elevated urine fumaric aci... OMIM:606812
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Premature coronary artery atherosclero... ORPHA:650
Short-Rib Thoracic Dysplasia 12
Atelectasis, Anencephaly, Hydrocephalus, Renal hypoplasia, Neonatal death, Pulmonary hypoplasia, ... OMIM:269860
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Panhypogammaglobulinemia, Enteroviral hepa... OMIM:307200
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus OMIM:609757
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, P... ORPHA:90674
Oligomeganephronia
Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ... ORPHA:2260
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal cortical microcysts, Atrial septal de... OMIM:614866
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Pancytopenia, Esophageal varix, Portal hyper... OMIM:617341
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Atherosclerosis, Angina pectoris, H... ORPHA:758
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega... OMIM:214900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Meckel Syndrome 14
Polycystic kidney dysplasia, Single ventricle OMIM:619879
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Anemia, Hydrocephalus, Premature birth, Thrombocyto... ORPHA:499009
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Palpebral edema, Increased serum beta-hexosaminidase, Megalocornea... OMIM:252500
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Normocytic anemia, Renal tubular epithelial necrosis, Hematuria, Elevated ci... ORPHA:49041
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Anemia, Aortic aneurysm, Hamartomatous polyposis, Aortic dissection, Hematochezia, Epistaxis, Juv... OMIM:175050
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal def... OMIM:300712
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Gaucher Disease Type 3
Hydrops fetalis, Anemia, Increased circulating antibody level, Pancytopenia, Abnormal heart valve... ORPHA:77261
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, Decreased proportio... ORPHA:66628
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Patent foramen ovale, Vesicoureteral reflux, Hydrone... ORPHA:96149
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Cutaneous anergy, Viral hepatitis, Biliary tract abnormali... OMIM:209920
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ... OMIM:612301
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomeg... OMIM:306400
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Achondrogenesis, Type Ii
Edema, Stillbirth, Polyhydramnios, Hydrops fetalis OMIM:200610
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Gm1 Gangliosidosis
Hydrops fetalis, Cardiomyopathy, Abnormal scrotum morphology, Hepatosplenomegaly, Splenomegaly, A... ORPHA:354
Aspergillosis
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia ORPHA:1163
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Orofaciodigital Syndrome I
Vascular dilatation, Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Protei... OMIM:311200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Transaldolase Deficiency
Decreased liver function, Anemia, Pancytopenia, Patent foramen ovale, Poor suck, Coarctation of a... OMIM:606003
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Chorioretinal colobom... ORPHA:231736
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Chronic diarrhea, Epistaxis, Hematochezia, Bruising susceptib... ORPHA:906
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Short chordae tendineae of th... OMIM:314400
Yellow Fever
Jaundice, Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, In... ORPHA:99829
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Bicuspid aortic valve, Pulmonic stenosis OMIM:616201
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Proteus Syndrome
Retinal hamartoma, Enlarged kidney, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplas... ORPHA:744
Zaki Syndrome
Renal agenesis, Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus OMIM:619648
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ptosis, Macroorchidism OMIM:309520
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Cardiac arrest, Constipation, Epistaxis, S... ORPHA:99745
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Fetal pleural effusion, Fetal... OMIM:620244
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, Decreased proportio... ORPHA:179494
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Truncus arteriosus, Pul... OMIM:134780
Hermansky-Pudlak Syndrome 1
Abdominal pain, Cardiomyopathy, Gingival bleeding, Inflammation of the large intestine, Hematoche... OMIM:203300
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Purpura, Gastritis, Gastroesophageal reflux, Myositis, ... ORPHA:809
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia, Recurrent respiratory infections, Atelectasis ORPHA:2314
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal de... OMIM:614921
Q Fever
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Granuloma, Cryoglobu... ORPHA:781
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hyperkeratosis over edematous are... OMIM:153100
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Alkaptonuria
Decreased glomerular filtration rate, Aortic aneurysm, Nephrolithiasis, Mitral valve calcificatio... OMIM:203500
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Abnorma... ORPHA:392
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Myopathy With Extrapyramidal Signs
Optic atrophy, Hypervalinemia, Hepatomegaly, Leukocytosis, Hyperlysinemia, Elevated circulating c... OMIM:615673
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Developmental ... OMIM:618440
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Polycystic kidney dysplasia, Patent foramen ovale, Renal cyst... OMIM:210710
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilo... OMIM:618278
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Death in childhood, Emphysema, Atelectasis, Accessory spleen, Hypop... OMIM:613177
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Ascites, Nonimmune hydrops fetalis, Hepatosplenomegaly, Abnormal cardiomyocyte mo... ORPHA:367
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Horseshoe kidney, Renal cyst ORPHA:166035
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Anemia, Chronic diarrhea, Abdominal pain, Cardiomyopathy, Leukocytosis,... OMIM:615895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Carpenter Syndrome 1
Transposition of the great arteries, Hydroureter, Pulmonic stenosis, Hydronephrosis, Tetralogy of... OMIM:201000
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Hepatomegaly, Increased circulating interleuki... OMIM:256040
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Koolen-De Vries Syndrome
Aortic root aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Pulmonic stenosi... OMIM:610443
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Renal hypoplasia, Hype... ORPHA:254913
Farber Disease
Atelectasis, Anemia, Diffuse reticular or finely nodular infiltrations, Hepatosplenomegaly, Throm... ORPHA:333
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca ORPHA:79128
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
X Small Rings
Aortic root aneurysm, Mitral stenosis, Fetal pyelectasis, Bicuspid aortic valve, Ventricular sept... ORPHA:96201
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Mitral valve prolapse, Patent ductus arteriosus OMIM:104350
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension ORPHA:1164
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Ascites, Hyper... ORPHA:1667
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Malignant Atrophic Papulosis
Ischemic stroke, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Arteritis, Abdominal ... ORPHA:679
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios, Anencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, Hydro... OMIM:616546
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Atelectasis, Recurrent lower respiratory tract infections, Reduced left ... ORPHA:258
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal... ORPHA:116
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Diarrhea, Intramuscular hematoma, Vomiting, Nausea, ... ORPHA:324636
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:79330
Ganglioneuroma
Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hyperte... ORPHA:251992
Meckel Syndrome, Type 1
Vascular dilatation, Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Coar... OMIM:249000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Cerebellar vermis hypoplasia, Pachygyria, Lateral ventricle dilatation, Ambiguou... OMIM:263520
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Cerebellar hypoplasia, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology... OMIM:216360
Combined Oxidative Phosphorylation Deficiency 18
Hypersegmentation of neutrophil nuclei, Macrocytic anemia OMIM:615578
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Petechiae, Macrothrombocytopenia, Absence of alph... OMIM:187900
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Whipple Disease
Anorexia, Myocarditis, Gastrointestinal hemorrhage, Anemia, Diarrhea, Abdominal pain, Myositis, H... ORPHA:3452
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr... OMIM:121050
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix, Pulmonary artery atresia, Pulmonary arterial hyper... ORPHA:974
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Blepharophimosis, Microcornea, Spherocytosis, Splenomegaly, Hyp... ORPHA:251066
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Vesicoureteral reflux, Hydronephrosis, Patent ductus arteriosus, Abnorma... ORPHA:250989
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Micropenis, Patent ductus arteriosus OMIM:243310
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Intestinal malrotation, Coarctat... ORPHA:3426
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Enlarged kidney, Astigmatism, Decreased response to growth hormone stimulation ... OMIM:615873
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Anemia, Diarrhea, Abdominal pain, Hamartomatous polyposis, ... OMIM:175500
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Downslanted palpebral fissures, Abnormal pupil morpholo... ORPHA:2969
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Feeding difficulties OMIM:620393
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Fraser Syndrome 3
Stillbirth, Sonographic non-visualized fetal bladder, Hypoplasia of penis, Hydrocephalus, Ascites... OMIM:617667
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short palpebral fissure, Long eyelashes, Precocious puberty, Horizontal eyebrow, Sparse lateral e... OMIM:619950
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cholelithiasis, Hypoparathyro... ORPHA:231222
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Lead Poisoning
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Reduced sperm motility, Imba... ORPHA:330015
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Noonan Syndrome 4
Ureteral duplication, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, Atrial sept... OMIM:610733
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Hepatitis, Lymphadenopathy ORPHA:139402
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cataract, Increased circulating ferritin concentration, Hepatic ... OMIM:606069
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Subarachnoid hemorrhage, Malabsorption OMIM:277175
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, H... OMIM:278000
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin... ORPHA:90045
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Duane-Radial Ray Syndrome
Vascular dilatation, Vesicoureteral reflux, Ventricular septal defect, Renal agenesis, Renal hypo... OMIM:607323
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hyperammonemia ORPHA:664
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Pancytopenia, Chronic diarrhea, Esophageal varix, Death in infancy, Inflammati... OMIM:614576
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Secundum atrial septal defect,... OMIM:612562
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Atelis Syndrome 1
Anemia, Leukopenia, Feeding difficulties, Thrombocytopenia, Atrial septal defect, Ventricular sep... OMIM:620184
Hennekam Syndrome
Lymphadenopathy, Decreased circulating antibody level, Lymphangioma, Splenomegaly, Pulmonary lymp... ORPHA:2136
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hydronephrosis, Pulmonary lymphangiectasia, Ventricular septal defec... OMIM:235255
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Urogenital sinus anomaly, Hypoplastic l... OMIM:618901
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Hepatomegaly, Incr... ORPHA:508533
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Pleural lymphangiectas... OMIM:235510
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle, Patent duc... OMIM:239850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar hypoplasia OMIM:615181
Castleman Disease
Jaundice, Increased circulating interleukin 6 concentration, Anemia, Mediastinal lymphadenopathy,... ORPHA:160
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr... OMIM:142900
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Death in infancy, Coarctation of ... OMIM:300514
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Increased T cell count, Consti... ORPHA:263665
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Abnormal bladder morphology, Vesicoureteral reflux, Ascending tubu... ORPHA:453499
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Hydroureter, Hydronephrosis, Fetal megacystis OMIM:619362
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Dark urine, Stage 5 chronic kidney disease, Dilatation of the re... OMIM:619534
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Charge Syndrome
Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Pulmonic stenosis, Renal a... OMIM:214800
Poems Syndrome
Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Polycythemia, Splenomegaly, ... ORPHA:2905
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Loeys-Dietz Syndrome 6
Arterial tortuosity, Vertebral artery aneurysm, Ventricular hypertrophy, Transient ischemic attac... OMIM:619656
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocytic anemia, Reticuloc... OMIM:615550
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Atri... OMIM:220500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia, Vomiting, Constipation, Feeding difficulti... OMIM:617450
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ureteral duplication, Double inlet left ventricle, Dextrocardia, P... OMIM:270100
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Coarctat... OMIM:618454
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a... ORPHA:90003
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hydronephrosis, Intracranial hemorrhage, Patent ductus arte... ORPHA:163979
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Digeorge Syndrome
Right aortic arch with mirror image branching, Unilateral renal agenesis, Interrupted aortic arch... OMIM:188400
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Glycogen Storage Disease Ixb
Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Enlargement... ORPHA:50918
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosity, A... OMIM:614816
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma OMIM:601794
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis, Leukocytosis, Elevated circulating C-reactive protein concentration, Conjuncti... OMIM:120100
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Nausea and vomiting, Anorexia, Episodic abdominal pain, Poor ... ORPHA:100075
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Epistaxis, Prolong... ORPHA:329
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Hereditary Elliptocytosis
Hydrops fetalis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Stomatocytosis, C... ORPHA:288
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Gastroesophageal reflux ORPHA:228399
Monosomy 13Q34
Prolonged prothrombin time, Pulmonic stenosis, Common atrium, Hematochezia, Epistaxis ORPHA:96168
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Ptosis, Splenomegaly, Hyperprolinemia OMIM:619046
Sitosterolemia 1
Corneal arcus, Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobi... OMIM:210250
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Bloom Syndrome
Decreased circulating total IgM, Acute myeloid leukemia, Recurrent tonsillitis, Abnormal proporti... ORPHA:125
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Telecanthus, Periportal fibrosis, Hypoplasia of the ovary, Hypopla... ORPHA:79328
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Splenic cyst, Hydrocephalus, Polymicrogyria, Patent foramen ovale, Hydranencepha... OMIM:620371
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Patent ductus arteriosus, Atrial septal defect, Ventricular se... OMIM:615668
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:611134
Mullegama-Klein-Martinez Syndrome
Apical muscular ventricular septal defect, Coarctation of aorta, Hypoplastic left heart OMIM:301022
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Primary Sjögren Syndrome
Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib... ORPHA:289390
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal... OMIM:620066
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Cataract, Aspartylglucosaminuria, Macroorchidism, Neutropenia OMIM:208400
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus, Renal dysplasia OMIM:617260
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia OMIM:617425
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Hydrops fetalis, Breech presentation, Polyhydramnios... OMIM:300868
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Diarrhea, Ab... ORPHA:727
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Normochromic anemia, Hypertension, Cardiomyopathy... ORPHA:247691
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Chédiak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... ORPHA:167
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Unilate... OMIM:619503
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Patent ductus ... OMIM:618223
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Bone ... OMIM:215140
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Incr... OMIM:235200
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen... OMIM:613490
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Reticulocytosis, Unconjugat... ORPHA:90038
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Pancre... ORPHA:1655
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Decreased circulating ... OMIM:226300
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Telecanthus, Renal insufficiency, Ptosis, Pulmonary lymphangiectasia, Catarac... OMIM:247410
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Preductal coarctation of th... OMIM:146510
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ureteropelvic junction obstruction, Hydronephrosis, Mitral valv... ORPHA:444072
Crome Syndrome
Cerebellar dysplasia, Renal tubular epithelial necrosis OMIM:218900
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the rectum, Stomach cancer, Abdominal pain, Hepatocellul... ORPHA:440437
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils ORPHA:379
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, D... ORPHA:370022
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema ORPHA:584
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Patent foramen ovale, Pulmonary artery atresia, ... OMIM:618316
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Pure red cell aplasia, Testic... OMIM:618165
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia ORPHA:935
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Sparse eyelashes, Sparse eyebrow, Splen... ORPHA:59303
Tarp Syndrome
Subdural hemorrhage, Hydronephrosis, Tetralogy of Fallot, Atrial septal defect, Horseshoe kidney OMIM:311900
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse, Multicystic kidney dysplasia OMIM:619980
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme... ORPHA:585
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Splenomegaly, Flexion contra... OMIM:608149
Joubert Syndrome 20
Renal cyst OMIM:614970
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly... ORPHA:294
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Abdominal pain, Hyp... ORPHA:729
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Refractory sideroblastic anemia, Anemia, Death in childhood, Pancytopenia, Retic... OMIM:557000
Caroli Syndrome
Conjunctival icterus, Leukopenia, Abnormal intrahepatic bile duct morphology, Abnormality of the ... ORPHA:480520
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Feeding difficulties OMIM:618506
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Cor... ORPHA:439232
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Stroke, Arteriosclerosis of small cerebral arteries, Transient ischemic att... OMIM:600142
Congenital Tracheal Stenosis
Abnormality of the kidney, Anomalous origin of left pulmonary artery from ascending aorta, Pulmon... ORPHA:141127
Dysbetalipoproteinemia
Renal steatosis, Type IV atherosclerotic lesion, Premature coronary artery atherosclerosis, Accel... ORPHA:412
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Aortic root aneurysm, Ventricular hypertrophy, Vesicoureteral reflux, ... OMIM:620654
Desmoid Tumor
Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Abdominal pain, Malabs... ORPHA:873
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardiac septum morphology, Renal agene... ORPHA:887
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Anemia, Diarrhea, Abdominal pain, Acute hepatic failure, Dysphagia, ... ORPHA:36426
Delpire-Mcneill Syndrome
Ventricular septal defect, Dysphagia, Tracheoesophageal fistula OMIM:619083
Opitz Gbbb Syndrome
Hypospadias, Aortic root aneurysm, Patent foramen ovale, Vesicoureteral reflux, Coarctation of ao... ORPHA:2745
Mosaic Trisomy 1
Renal cortical cysts, Pulmonary artery atresia, Renal cyst, Coarctation of aorta, Penile hypospad... ORPHA:1692
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis, Aortopulmonary collater... OMIM:617557
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Renal amyloidosis, Conjunc... ORPHA:575
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Zellweger Syndrome
Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Corneal opacity, Upslan... ORPHA:912
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale, Hydrops fetalis OMIM:228520
Aniridia-Absent Patella Syndrome
Cataract, Ptosis, Cryptorchidism, Aniridia ORPHA:1069
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Epicanthu... ORPHA:261534
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil... OMIM:602347
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Hydronephrosis ORPHA:531151
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Hydrocephalus, Abnormal heart valve morphology, Cardiomyopathy, Splenomegaly OMIM:253220
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Dyskeratosis Congenita, Digenic
Anemia, Decreased testicular size, Decreased circulating IgG level, Decreased circulating total I... OMIM:620040
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent foramen ovale, Vesicoureteral reflux, Bilateral superior vena cava w... OMIM:618460
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Noonan Syndrome 2
Atrioventricular canal defect, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, Ventricular ... OMIM:605275
Hemophilia B
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular sep... OMIM:600460
Lateral Meningocele Syndrome
Aortic aneurysm, Neurogenic bladder, Patent ductus arteriosus, Bicuspid aortic valve, Ventricular... OMIM:130720
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Nephrocal... OMIM:615398
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Pulmonic stenosis, Hydronephrosis, Patent ductus arterios... OMIM:616737
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Hydrocephalus, Megaloblastic anemia, Dehydration, Abnormal heart morphology, Thr... ORPHA:79282
Achondrogenesis, Type Ia
Stillbirth, Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Absence of stomach bu... OMIM:200600
Campomelia, Cumming Type
Death in infancy, Hydrops fetalis, Oligohydramnios, Lymphedema ORPHA:1318
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Complete or near-complete ab... OMIM:233600
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Increased ci... OMIM:618886
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia, Ventricular septal defect OMIM:612528
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Cataract, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia OMIM:618805
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy, Hepatosplenomegaly, Intrauterine g... ORPHA:79255
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:612938
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Abnormality of the urinary system, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:96092
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E... OMIM:601775
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Aortic valve stenosis, Hydrone... ORPHA:464311
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, D... ORPHA:90363
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication, Bicu... ORPHA:96169
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Renal hypoplasia/apl... ORPHA:2461
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Renal cyst, Bifid ureter, Mitral valve prolapse, Renal dysplasia, Vari... OMIM:617107
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Anemia, Abdominal pain, Intestinal perforation, Tracheoesophageal fi... ORPHA:537
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Patent ductus a... OMIM:614080
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... OMIM:609049
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creatinine concent... ORPHA:411634
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Joubert Syndrome 14
Ventricular septal defect, Intracranial hemorrhage, Renal cyst OMIM:614424
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Gastroesophageal reflux, Truncus arteriosus, Pulmon... OMIM:609029
Craniofacial Microsomia 1
Ectopic kidney, Right aortic arch, Vesicoureteral reflux, Renal agenesis, Coarctation of aorta, U... OMIM:164210
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Ptosis, Abnormal renal physiology... OMIM:266500
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Death in infancy OMIM:147800
Schneckenbecken Dysplasia
Stillbirth, Polyhydramnios, Nonimmune hydrops fetalis OMIM:269250
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Bardet-Biedl Syndrome 17
Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Micro... OMIM:615994
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Multicystic kidney dysplasia, Pulmonic stenosis, Coar... ORPHA:97360
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature OMIM:300863
Vater/Vacterl Association
Transposition of the great arteries, Ectopic kidney, Hypospadias, Patent ductus arteriosus, Vesic... OMIM:192350
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hydrops fetalis, Ventricular septal defect, Agenesis of corpus callosum ORPHA:268249
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Unilateral renal agenesis OMIM:614900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst OMIM:610199
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Neutropenia OMIM:618067
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Hydroureter OMIM:616367
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Circulating immune complexes, Abnormality of the lymphatic sys... ORPHA:2035
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Lymphangiectasis, Renal cyst OMIM:602579
Kapur-Toriello Syndrome
Intestinal malrotation, Constipation, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular ... ORPHA:2328
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Downslanted palpebral fissures, Orotic acid cr... ORPHA:30
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Reduced circulating complement concentration ORPHA:36412
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Hypertrophic cardiomyopathy,... OMIM:617506
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l... ORPHA:124
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Curly eyelashes, Lymphocytosis, Chronic neutropenia, Short eye... OMIM:258360
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Leukemia OMIM:602501
Zimmermann-Laband Syndrome
Hepatomegaly, Telecanthus, Abnormal external genitalia, Long eyelashes, Downslanted palpebral fis... ORPHA:3473
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, B lymphocytopenia, Pyloric stenosis, Severe B lymphocyt... ORPHA:83617
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Atelectasis, Anemia, Hypercalciuria,... ORPHA:534
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Anemia, Macrocytic anemia, Morgagni diaphragmatic hernia, Reticu... OMIM:613309
Aicardi-Goutieres Syndrome 7
Hematemesis, Anemia, Limb hypertonia, Pancytopenia, Diarrhea, Vasculitis, Hypertension, Bloody di... OMIM:615846
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Port... ORPHA:79319
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea... OMIM:615630
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Calcinosis, Angina pectoris, Abdominal pain, Vasculitis, Myositis, C... ORPHA:93672
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Abnormal cardiac septum morphology ORPHA:3079
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature arteriosclerosis, Renal steatosis, Premature coronary arter... ORPHA:391665
Fetal Akinesia Deformation Sequence 1
Stillbirth, Short umbilical cord, Polyhydramnios, Small placenta, Hydrocephalus, Increased nuchal... OMIM:208150
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Hypospadias, Hydronephrosis OMIM:616449
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Protein-losing enteropathy, Hematochezia ORPHA:103910
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Acrocardiofacial Syndrome
Truncus arteriosus, Death in infancy, Camptodactyly of finger, Coarctation of aorta, Mitral steno... ORPHA:2008
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Ambiguous genitalia, male, Intrahepatic cholestasis, H... OMIM:607330
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Atelectasis, Repeated pneumothoraces, Hydrocephalus, Pulmonary hypoplasia, Bruisi... ORPHA:536467
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen... OMIM:203780
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Diffuse reti... ORPHA:79127
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Pierpont Syndrome
Microphthalmia ORPHA:487825
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatou... ORPHA:329971
Basel-Vanagaite-Smirin-Yosef Syndrome
Left superior vena cava draining to coronary sinus, Hypospadias, Male urethral meatus stenosis, H... ORPHA:464738
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega... ORPHA:91138
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abdominal pain... ORPHA:131
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Leprechaunism
Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hypokalemia, Long penis, Hypercalciuria, Enl... ORPHA:508
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Patent ductus arteriosus, Atrial... OMIM:618870
Noonan Syndrome 10
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, M... OMIM:616564
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Hypocalcemia, Recurrent urinary tract infections, Increased circulating myel... ORPHA:36234
ERI1-related disease
Abnormal heart morphology, Ventricular septal defect, Hydronephrosis, Vesicoureteral reflux OMIM:608739
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insu... OMIM:614922
Johanson-Blizzard Syndrome
Dextrocardia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Abnormal cardiac septum morphology ORPHA:2315
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Mitral stenosis, Aortic valve calcificati... OMIM:231005
Fanconi Renotubular Syndrome 5
Emphysema, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Lung adenocarcinoma, Proteinuri... OMIM:618913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ... OMIM:610921
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Feeding difficulties, Patent ductus arteriosus OMIM:617516
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Coarcta... ORPHA:2322
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Coronary artery atherosclerosis, Pulmonic stenosis, Pyloric stenosis, S... ORPHA:435638
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Czeizel-Losonci Syndrome
Dextrocardia, Congenital megaureter, Ureteral agenesis, Hydronephrosis, Abnormality of the urinar... ORPHA:2437
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy ORPHA:401923
Alpha-Mannosidosis, Adult Form
Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Optic disc pallor ORPHA:309288
Yunis-Varon Syndrome
Clitoral hypertrophy, Hydrops fetalis, Polyhydramnios, Hypospadias, Hydrocephalus, Ventricular se... ORPHA:3472
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Aortic valve stenosis, Hydrone... ORPHA:464306
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Right atrial enlargement ORPHA:555877
Thymoma
Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Pure red c... ORPHA:99867
Squalene Synthase Deficiency
Hypospadias, Elevated urine mesaconic acid level, Elevated urinary mevalonate lactone level, Bicu... OMIM:618156
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fluid OMIM:609015
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Renal cortical microcysts, Hydronephrosis, Albuminuria, Patent ductus arteriosus, Ve... OMIM:214100
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Chronic diarrhea, Abdominal pain, Vomiting, Chronic consti... OMIM:142680
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Refsum Disease
Ptosis, Abnormality of retinal pigmentation, Splenomegaly, Cataract, Renal insufficiency ORPHA:773
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Chime Syndrome
Pulmonary valve atresia, Abnormality of the kidney, Transposition of the great arteries, Hydronep... ORPHA:3474
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Death in infancy, Pericardial effusion, Secretory diarrhea, Hematoche... OMIM:618183
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Pelvic kidney, Patent foramen ovale, Vesicoureteral reflux, Hydronephrosis, Micr... OMIM:618653
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Hydronephrosis, Patent ductus arteriosus, Ventricular septal defect, Mu... ORPHA:2092
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibo... OMIM:181000
Chops Syndrome
Optic atrophy, Vesicoureteral reflux, Long eyelashes, Synophrys, Thick eyebrow, Splenomegaly, Cat... OMIM:616368
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Hypoplasia of penis, Abnormal aortic morphology, Hydronephro... ORPHA:1507
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, Ankyloblepharon,... ORPHA:568
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Ren... ORPHA:91500
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Renal insufficiency, Highly arched eyebrow, Intrahepatic biliary atresia... ORPHA:1454
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, B lymphocytopen... ORPHA:391487
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay ORPHA:85284
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased specific pneumococcal antibody level... ORPHA:183675
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Cataract, Hyperphospha... OMIM:146200
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Atelis Syndrome 2
Short palpebral fissure, Anemia, Remnants of the hyaloid vascular system, Thrombocytopenia, Devel... OMIM:620185
Dopamine Beta-Hydroxylase Deficiency
Bilateral ptosis, Anemia, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturi... ORPHA:230
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weak... OMIM:619542
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly ORPHA:39812
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Renal agenesis, Pulmonary artery stenosis, Hypoplasia of the bladder, Ventricular se... OMIM:611812
Seckel Syndrome 2
Short stature, Microphthalmia, Growth delay OMIM:606744
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Noonan Syndrome 3
Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Patent foramen ovale, Hypertrophic ca... OMIM:609942
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... ORPHA:1333
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... OMIM:249100
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of sma... ORPHA:139466
Carney Complex
Ductal carcinoma in situ, Nodular changes affecting the eyelids, Neoplasm of the pancreas, Testic... ORPHA:1359
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Atrial septal defect, Patent ductus arteriosus, Dysplastic pulmonar... OMIM:612863
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hy... OMIM:617913
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abno... ORPHA:99826
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis, Hydrocele testis OMIM:607823
Myeloma, Multiple
Paraproteinemia OMIM:254500
Lynch Syndrome
Neoplasm of the stomach, Gastrointestinal hemorrhage, Intestinal polyposis, Neoplasm of the rectu... ORPHA:144
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites, Death in infancy OMIM:617049
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Patent foramen ovale, Death in infancy, Arthrogryposis multiplex congenita, Th... OMIM:208085
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis, Abnormal cardiac septum morphology ORPHA:2484
Wagro Syndrome
Hypoplastic female external genitalia, Aniridia, Corneal opacity, Decreased testicular size, Ptos... OMIM:612469
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Proboscis Lateralis
Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Ureteral agenesis, Duplicat... ORPHA:141099
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion contracture, Pulmo... OMIM:602782
Teebi-Shaltout Syndrome
Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defect, Horseshoe ki... OMIM:272950
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Aortic aneurysm, Enuresis, Aortic valve stenosis, Hydrone... ORPHA:96121
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Coloboma, Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic post... OMIM:610125
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal de... OMIM:610759
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Premature coronary artery atherosclerosis, Aortic root an... ORPHA:90324
Lmna-Related Cardiocutaneous Progeria Syndrome
Coronary artery atherosclerosis, Aortic root aneurysm, Ventricular hypertrophy, Mitral valve calc... ORPHA:363618
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Hardikar Syndrome
Bladder exstrophy, Hydroureter, Patent ductus arteriosus, Recurrent urinary tract infections, Pat... OMIM:301068
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Hydronephrosis OMIM:619179
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Cholestasis, Thrombocytop... OMIM:619573
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Wolfram Syndrome
Gastrointestinal hemorrhage, Anemia, Cardiomyopathy, Constipation, Malabsorption, Gastric ulcer, ... ORPHA:3463
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hyposegmentation of neutrophil nuclei ORPHA:250999
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Feeding difficulties, Chronic constipation, Ventricular septal defect, Peripheral p... OMIM:619575
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin ORPHA:90037
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Ritscher-Schinzel Syndrome 2
Camptodactyly, Pulmonary artery hypoplasia, Intestinal malrotation, Camptodactyly of finger, Pate... OMIM:300963
Pearson Syndrome
Hydrops fetalis, Anemia, Pancytopenia, Corneal stromal edema, Cardiomyopathy, Dehydration, Reticu... ORPHA:699
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:620075
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem... OMIM:240300
Trisomy 8P
Abnormal left ventricle morphology, Dysplastic aortic valve, Nephrocalcinosis, Tetralogy of Fallo... ORPHA:264450
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Diarrhea, Abdominal pain, Colon cancer, Hematoc... OMIM:174900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619720
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly, Epicanthus OMIM:618541
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Atrial septal defect, Hydronephrosis, Patent ductus arteriosus OMIM:300968
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Micropenis, Hydronephrosis OMIM:617798
De Barsy Syndrome
Hypoplastic aortic arch, Prominent veins on trunk, Patent ductus arteriosus, Persistent left supe... ORPHA:2962
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Bloom Syndrome
Cryptorchidism, Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating t... OMIM:210900
Poikiloderma With Neutropenia
Nasolacrimal duct obstruction, Elevated circulating creatine kinase concentration, Sparse lateral... OMIM:604173
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Poor suck, Diastasis recti, Abnormal heart morphology, Ventricular septal defect, Feeding difficu... ORPHA:254534
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 3rd finger, Feeding difficulties, Knee f... OMIM:617201
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Azotemia, Hypoplasia of the ovary, Optic nerve hypoplasia, Leukocytosis, Decreased... OMIM:619321
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart OMIM:619721
Caffey Disease
Increased circulating antibody level ORPHA:1310
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia, Spina bifida occulta OMIM:169550
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Enlarged kidney, Cardiomegaly, Ascites OMIM:261740
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... ORPHA:280633
Pagod Syndrome
Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal aortic morphology, Pulmonary artery hy... ORPHA:991
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Kapur-Toriello Syndrome
Intestinal malrotation, Constipation, Camptodactyly of finger, Patent ductus arteriosus, Atrial s... OMIM:244300
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Aspartylglucosaminuria, Macroorchidism ORPHA:93
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Acrorenal-Mandibular Syndrome
Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter OMIM:200980
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Scapular winging, Dysphagia, Chronic constipation, Feeding difficulties... OMIM:617061
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Arterial Tortuosity Syndrome
Myocarditis, Abnormal carotid artery morphology, Vascular dilatation, Aortic aneurysm, Aortic roo... ORPHA:3342
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus a... ORPHA:2519
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Pt... ORPHA:46059
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Lysinuric Protein Intolerance
Cirrhosis, Hepatomegaly, Anemia, Hemophagocytosis, Increased circulating antibody level, Pancreat... ORPHA:470
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Coloboma, Microcornea, Long eyelashes, Precocious puberty, Cryptophthalmos, Scleroco... OMIM:615877
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature ORPHA:163966
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Emanuel Syndrome
Congenital diaphragmatic hernia, Multiple joint contractures, Gastroesophageal reflux, Truncus ar... ORPHA:96170
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Hermansky-Pudlak Syndrome
Anorexia, Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, Cardiomyopathy, Epistax... ORPHA:79430
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus OMIM:257920
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadias, Interrupte... ORPHA:17
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Genitopatellar Syndrome
Atrial septal defect, Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Duplicated collecting system, Pulmonary artery stenosis, Hyd... OMIM:280000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Camptodactyly, Atrial septal defect, Ventricular septal defect, Mitral regu... OMIM:301039
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Hypoparathyr... ORPHA:231226
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased response to growth hormone stimulation test, Decreased... OMIM:615577
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Hepatic steatosis, Microcytic anemia, T lymphocytopenia ORPHA:2959
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Nephroblastoma, Downslant... OMIM:312870
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Blue Rubber Bleb Nevus
Gastrointestinal infarctions, Volvulus, Intestinal bleeding, Prolonged bleeding time, Microcytic ... ORPHA:1059
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Patent ductus arteriosus ORPHA:77298
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary arterial hypertension, Aortic valve stenosis, Pulmonary artery stenosis, R... OMIM:615067
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Left ventricular hypertrophy, Renal insuf... OMIM:611209
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Abnormal ble... ORPHA:97214
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Spondylo-Ocular Syndrome
Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ... ORPHA:85194
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Galactosialidosis
Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Relapsing Polychondritis
Myocarditis, Large vessel vasculitis, Purpura, Hematuria, Glomerulopathy, Atelectasis, Pericardit... ORPHA:728
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Patent foramen ovale, Arthrogryposis multiplex congenita, Constipation, ... OMIM:614961
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta, Hydronephrosis, Ventricular septal defect, Multicyst... ORPHA:2308
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Hamartomatous stomach polyps, Spontaneous, recurrent epistaxis, Rect... ORPHA:2929
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Adams-Oliver Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Tetralogy of Fallot, Bicuspi... OMIM:100300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Glomerular sclerosis, Corneal ulceration, Increased blood urea nitrog... OMIM:223900
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Vesicoureteral reflux OMIM:620663
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:228390
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Temtamy Syndrome
Microphthalmia ORPHA:1777
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ... OMIM:618164
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Anemia, Decreased glomerular filtration rate, Acute tubulointe... ORPHA:340
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P... OMIM:305000
Axial Osteomalacia
Renal cyst OMIM:109130
Tarp Syndrome
Hydronephrosis, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Ho... ORPHA:2886
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib... OMIM:620519
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Feeding difficulties, Patent ductus arteriosus, Atrial s... OMIM:620024
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, H... ORPHA:365
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Steatorrhea, Diarrhea, Hematochezia, Splenomegaly, Hepatic failure OMIM:613812
Hemophilia A
Hematemesis, Purpura, Melena, Muscle hemorrhage, Petechiae, Gingival bleeding, Joint hemorrhage, ... OMIM:306700
Alagille Syndrome 1
Atrial septal defect, Duplicated collecting system, Renal tubular acidosis, Stroke, Vesicouretera... OMIM:118450
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypo... OMIM:259720
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Cardiomyopathy, Renal cyst, Nephrocalcinosis, Renal insufficiency ORPHA:445038
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cataract, Stom... OMIM:608885
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy OMIM:230800
Carney Triad
Anorexia, Gastrointestinal hemorrhage, Anemia, Leiomyosarcoma, Tachycardia, Diarrhea, Abdominal p... ORPHA:139411
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Donnai-Barrow Syndrome
Intestinal malrotation, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,... ORPHA:77297
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno... ORPHA:2396
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Bone marro... OMIM:613990
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Peri... OMIM:618775
Costello Syndrome
Gastroesophageal reflux, Poor suck, Hypertrophic cardiomyopathy, Thickened Achilles tendon, Pulmo... ORPHA:3071
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Vascular dilatation, Stroke, Arterial stenosis, Patent ductus arteriosus, Abnormal cerebral vascu... ORPHA:2637
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Tetralog... OMIM:153400
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit... ORPHA:231214
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperpho... OMIM:239200
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Tetralogy of Fallot, Chronic constipation, Patent ductus arteriosus, Atrial... OMIM:612582
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Lymphedema, Nonimmune hydrops fetalis, Hydrocele testis OMIM:137940
Down Syndrome
Aganglionic megacolon, Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ov... OMIM:190685
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Cryptorchidism ORPHA:3409
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re... OMIM:243605
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Ventricular septal defect, Death in infancy OMIM:616901
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Perlman Syndrome
Interrupted aortic arch, Nephroblastomatosis, Renal hamartoma, Nephrogenic rest, Nephroblastoma OMIM:267000
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Displacement of the urethral meatus, Arterial stenosis, Patent ductus... ORPHA:1556
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Ventricular septal defect, Feeding difficulties in infancy OMIM:608572
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Feeding difficulties OMIM:615102
Congenital Bile Acid Synthesis Defect Type 4
Rhabdomyolysis, Hematochezia ORPHA:79095
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Nephrolithiasis, Functional abnormality of the bladder, Abnormal... ORPHA:2953
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:250410
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne... ORPHA:93126
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney... ORPHA:1225
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Lymphadenopathy, Thrombocytopenia, Leukopenia,... ORPHA:536
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Peripheral arterial ... OMIM:259900
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Meckel Syndrome
Optic atrophy, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Microcornea,... ORPHA:564
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Behçet Disease
Anorexia, Gastrointestinal hemorrhage, Aortic regurgitation, Recurrent aphthous stomatitis, Myosi... ORPHA:117
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Loss of eyelashes, Corneal scarring, Absent ey... OMIM:263700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Flexion contracture, Feeding difficulties, Ventricular septal defect, Ga... ORPHA:79243
Filippi Syndrome
Ventricular septal defect OMIM:272440
Apert Syndrome
Overriding aorta, Ventricular septal defect, Hydronephrosis OMIM:101200
Amyloidosis, Finnish Type
Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Renal glomerular a... OMIM:105120
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Nausea, Epistaxis, Intrac... ORPHA:369929
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Feeding difficulties, Gastroesophageal reflux OMIM:617635
Liver Disease, Severe Congenital
Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenom... OMIM:619991
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis ORPHA:32960
Cystinosis, Nephropathic
Recurrent corneal erosions, Generalized aminoaciduria, Corneal crystals, Splenomegaly, Hypophosph... OMIM:219800
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... OMIM:613795
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Aortic aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Cardiomy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Aortic aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Cardiomy... ORPHA:363958
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology, Atrial septal defect, ... ORPHA:261197
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia, Fat malabsorption, Hepatic failure OMIM:214950
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
2Q37 Microdeletion Syndrome
Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dysplasia ORPHA:1001
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm, Vesicoureteral reflux, Abnormal heart morphology, Hydronephrosis, Bicuspid aorti... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm, Vesicoureteral reflux, Abnormal heart morphology, Hydronephrosis, Bicuspid aorti... ORPHA:352665
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Asplenia, Pulmonic stenosis, Ventricular septal def... OMIM:619123
Phocomelia, Schinzel Type
Hydrops fetalis, Hypoplasia of penis, Meningocele, Aplasia of the uterus, Intrauterine growth ret... ORPHA:2879
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Aortic root aneurysm, Patent foramen ovale, Mitral valve prolapse, Left ve... OMIM:245600
45,X/46,Xy Mixed Gonadal Dysgenesis
Epispadias, Abnormality of the kidney, Penoscrotal hypospadias, Hypospadias, Urogenital sinus ano... ORPHA:1772
Biotinidase Deficiency
Optic atrophy, Hepatomegaly, Organic aciduria, Hyperammonemia, Splenomegaly, Conjunctivitis OMIM:253260
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Dea... OMIM:613404
Granulomatosis With Polyangiitis
Intestinal obstruction, Gastrointestinal hemorrhage, Purpura, Angina pectoris, Abdominal pain, Va... ORPHA:900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R... ORPHA:264580
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Micropenis ORPHA:364028
Shigellosis
Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Corneal ulceration, Splenic abscess, ... ORPHA:810
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Telecanthus, Renal insufficiency, Hypocalcemia, Cataract, Nephropathy ORPHA:1563
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Mul... ORPHA:3301
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Woods Syndrome
Ventricular septal defect OMIM:615236
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Camptodactyly, Abnormal heart morphology, Arthrogryposis-like hand anomaly,... ORPHA:369891
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Alkaptonuria
Atherosclerosis, Aortic aneurysm, Abnormal heart valve morphology, Nephrolithiasis, Mitral valve ... ORPHA:56
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Vomiting, Ventricular fibrilla... ORPHA:26793
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Neuroblastoma
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:635
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Atrioventricular canal defect, Unilateral renal agenesis, Hypoplastic ... ORPHA:508488
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ven... ORPHA:457279
Agel Amyloidosis
Bilateral ptosis, Corneal ulceration, Abnormal spleen morphology, Lattice corneal dystrophy, Prot... ORPHA:85448
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit... OMIM:251880
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Abnormal heart mor... ORPHA:369837
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal eyelash morphology, Abnormal ... ORPHA:1775
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Alzahrani-Kuwahara Syndrome
Hypospadias, Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava... OMIM:619268
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Gray matter heterotopia ORPHA:1493
Neuroocular Syndrome
Highly arched eyebrow, Nasolacrimal duct obstruction, Microcornea, Stellate iris, Remnants of the... OMIM:619539
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Poor suck, Abnormal heart morphology, Dysphagia, Feeding difficulties, V... ORPHA:494344
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... OMIM:192315
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Cranioectodermal Dysplasia 2
Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Splenomegaly, Left ventricular hypertrophy... OMIM:613610
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Hereditary Chronic Pancreatitis
Jaundice, Elevated circulating C-reactive protein concentration, Leukocytosis, Pancreatic calcifi... ORPHA:676
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acid... ORPHA:79240
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis, Renal angi... OMIM:191100
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Hyperammonemia, Leukopenia,... OMIM:222700
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Hyperammonemia, Splenomegaly, Hep... OMIM:618641
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot, Feeding difficulties ORPHA:3306
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:617159
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Hydrops fetalis, Hypospadias, Decreased fetal movement, Cryptorchidism OMIM:265000
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:614800
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Lymphedema, Abnormal heart morphology, Nonimmune hydrops fetalis ORPHA:137667
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Congenital Myopathy 22B, Severe Fetal
Polyhydramnios, Breech presentation, Pleural effusion, Ascites, Nonimmune hydrops fetalis, Decrea... OMIM:620369
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Tetrasomy 9P
Dextrocardia, Juxtaductal coarctation of the aorta, Recurrent urinary tract infections, Patent fo... ORPHA:3310
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased... ORPHA:542323
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Macular atro... OMIM:212550
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Brachydactyly, Type B1
Ventricular septal defect, Camptodactyly, Joint contracture of the hand OMIM:113000
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proli... ORPHA:30391
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Congenital Erythropoietic Porphyria
Ectropion, Increased urinary porphobilinogen, Purple urine, Red-brown urine, Reticulocytosis, Unc... ORPHA:79277
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia ORPHA:2189
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence o... OMIM:601808
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Feeding difficulties, Chronic constipation, Atrial septal defect, Ventricula... OMIM:617452
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology ORPHA:2075
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Sandifer Syndrome
Hematemesis, Anemia, Torticollis, Episodic vomiting, Gastroesophageal reflux, Esophagitis, Feedin... ORPHA:71272
Wilson Disease
Sunflower cataract, Portal fibrosis, Ascites, Splenomegaly, High nonceruloplasmin-bound serum cop... OMIM:277900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc OMIM:201100
Lymphedema-Distichiasis Syndrome
Ectropion, Glomerulopathy, Corneal erosion, Recurrent urinary tract infections, Distichiasis, Pto... ORPHA:33001
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... ORPHA:420741
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Chronic constipation, Patent ductus arteriosus OMIM:300472
Microphthalmia, Syndromic 2
Dextrocardia, Hypospadias, Hypoplastic aortic arch, Pulmonic stenosis, Aortic valve stenosis, Mit... OMIM:300166
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Decre... OMIM:613070
Urachal Cyst
Hematuria, Elevated circulating C-reactive protein concentration, Pyuria, Dysuria, Leukocytosis, ... ORPHA:488
Roberts-Sc Phocomelia Syndrome
Hypospadias, Long penis, Polycystic kidney dysplasia, Patent ductus arteriosus, Atrial septal def... OMIM:268300
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis, Orchitis ORPHA:342
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rena... ORPHA:1652
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Renal insufficiency, Nephropathy, Cataract, Microscopic hematuria, Thickened glomerula... OMIM:308940
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis, Cor pulmonale, Mitral valve prolapse OMIM:305620
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic valve calcification OMIM:114065
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... ORPHA:3260
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Hy... OMIM:270400
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Pulmonic stenosis, Nephroblastoma, Atrial ... OMIM:257300
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Erdheim-Chester Disease
Abnormal aortic valve morphology, Dysuria, Abnormal pericardium morphology, Hydronephrosis, Renal... ORPHA:35687
Niemann-Pick Disease Type C
Hydrops fetalis, Cerebellar vermis atrophy, Bone-marrow foam cells, Ascites, Hepatosplenomegaly, ... ORPHA:646
Floating-Harbor Syndrome
Mesocardia, Hypospadias, Glandular hypospadias, Persistent left superior vena cava, Coarctation o... OMIM:136140
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Abnormality of iron homeostasis, Hy... OMIM:222470
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Pulmonary artery atresia, Feeding difficulties, Patent ductus arteriosus, V... OMIM:620113
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
19P13.3 Microduplication Syndrome
Episodic vomiting, Gastroesophageal reflux, Pulmonary arterial hypertension, Constipation, Ventri... ORPHA:447980
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch ORPHA:457284
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Type II lissencephaly, Death in infancy, Cerebella... OMIM:613150
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1915
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Coarctation of aorta, Nephroblastoma, Atrial septal defect, Multicyst... ORPHA:1052
Turcot Syndrome With Polyposis
Intestinal polyposis, Melena, Diarrhea, Abdominal pain, Adenomatous colonic polyposis, Vomiting, ... ORPHA:99818
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Feeding difficulties in infancy, Facial hypotonia OMIM:618798
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Vesicoureteral reflux, Anomalous origin of left subclavian artery, Nephroli... ORPHA:438213
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract ORPHA:2995
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Renal hypoplasia/aplasia, Coloboma, Microcornea, Vesicoureteral reflux, ... ORPHA:959
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Cardiac rhabdomyoma, Renal cell carcinoma, Ren... OMIM:613254
Au-Kline Syndrome
Aortic root aneurysm, Vesicoureteral reflux, Hydronephrosis, Chronic kidney disease, Dilatation o... OMIM:616580
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Aniridia 1
Bilateral ptosis, Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, ... ORPHA:1340
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Encephalocele ORPHA:1791
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis OMIM:620365
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Total anomalous pulmonary venous return, Abnormal heart m... ORPHA:487796
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Feeding difficulties, Chronic constipation, Atrial septal defect, Ventric... ORPHA:505237
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Anophthalmia OMIM:147250
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Otopalatodigital Syndrome Type 2
Hypospadias, Abnormal heart valve morphology, Ureteral obstruction, Hydronephrosis, Abnormal card... ORPHA:90652
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vesicoureteral reflux, Ectopia lentis, Lymphangioma, Bi... ORPHA:1571
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Coarct... ORPHA:1708
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:609053
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Umbilical hernia ORPHA:2505
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Abnormal heart valve morphology, Aor... ORPHA:1606
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis ORPHA:2510
Ogden Syndrome
Torticollis, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular septal defect ORPHA:276432
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Williams Syndrome
Abnormal carotid artery morphology, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Mul... ORPHA:904
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Tricuspid regurgitation OMIM:615879
Feingold Syndrome 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus, Ventric... OMIM:164280
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Systemic Sclerosis
Nail bed telangiectasia, Gastroparesis, Bowel incontinence, Pericarditis, Dysphagia, Intestinal b... ORPHA:90291
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Renal hypoplasia/aplasia, Hypospadias, Patent ductus arteriosus, H... ORPHA:818
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Patent ductus arteriosus, Decreased circulating total IgM, Crypt... OMIM:607143
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal gastrointestinal tract morphology, Intestinal malrotation, Abnormal heart morphology, Fe... ORPHA:404440
Monosomy 18P
Short stature, Microphthalmia ORPHA:1598
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Hydronephrosis, Vesicoureteral reflux OMIM:615926
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Pulmonary arterial hypertension, Recurrent cutaneous abscess formation, Mit... ORPHA:163956
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Garg-Mishra Progeroid Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:620601
Histiocytoid Cardiomyopathy
Renal cyst, Stroke-like episode, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect ORPHA:1488
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia, Feeding difficulties OMIM:618325
Charge Syndrome
Abnormal aortic valve morphology, Interrupted aortic arch, Vesicoureteral reflux, Aortic arch ane... ORPHA:138
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Truncus arteriosus, Renal agenesis, Crossed fused renal ectopia, Renal ... ORPHA:2538
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Nasolacrimal duct... OMIM:612109
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Feeding difficulties, Mitr... OMIM:614609
Cardiofaciocutaneous Syndrome 1
Pulmonic stenosis, Atrial septal defect, Hydronephrosis, Hypertrophic cardiomyopathy OMIM:115150
Kabuki Syndrome 1
Coarctation of aorta, Hydronephrosis, Ureteropelvic junction obstruction, Crossed fused renal ect... OMIM:147920
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:2728
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Intestinal polyposis, ... ORPHA:774
Williams-Beuren Syndrome
Abnormal renal morphology, Pulmonic stenosis, Nephrocalcinosis, Mitral valve prolapse, Urethral s... OMIM:194050
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa... OMIM:269200
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Melena, Post-partum hemorrhage, Increased mean corpuscular volume, Gingival bleeding, Poi... ORPHA:98870
Trisomy 18
Abnormality of the upper urinary tract, Atrial septal defect, Ventricular septal defect, Hydronep... ORPHA:3380
Cerebrocostomandibular Syndrome
Ectopic kidney, Renal cyst, Patent ductus arteriosus, Atrial septal defect, Ventricular septal de... OMIM:117650
Chand Syndrome
Atelectasis, Hydroureter ORPHA:1401
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Nasogastric tube feeding, Ventricular septal defect ORPHA:3078
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Aortic root aneurysm, Camptodactyly, Intestinal malrotation, Coa... OMIM:617602
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Aortic aneurysm, Bladder diverticulum, Cerebral hemorrhage, Bicuspid aortic valve, ... ORPHA:536545
Cockayne Syndrome
Urinary incontinence, Retinal atrophy, Splenomegaly, Optic atrophy, Band keratopathy, Retinal hem... ORPHA:191
Recombinant 8 Syndrome
Pulmonary artery stenosis, Camptodactyly of finger, Tetralogy of Fallot, Patent ductus arteriosus... ORPHA:96167
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect, Mi... OMIM:277600
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Macrocytic anemia, Coronary artery fistula, Ventri... OMIM:614294
Dubowitz Syndrome
Aplastic anemia, Cryptorchidism, Decreased circulating IgG level, Acute lymphoblastic leukemia, D... OMIM:223370
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis, Testicular teratoma ORPHA:764
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Hydronephrosis, Single ventricle, Abnormal cardiac septum morphology OMIM:308050
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... ORPHA:31150
Pfeiffer Syndrome Type 3
Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:93260
Peters Plus Syndrome
Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Abnormal cardiac septum morphology, ... ORPHA:709
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Patent ductus arteriosus, Pelvic kidney, Grade III vesicourete... OMIM:619522
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect, Feeding difficulties, Gastroesophageal re... OMIM:617164
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Arrhythmia, Atrial septal defect, Ventr... ORPHA:254346
Okamoto Syndrome
Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val... ORPHA:2729
Glucagonoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Normochromic anemia, ... ORPHA:97280
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Anomal... OMIM:616462
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Sarcoidosis
Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop... ORPHA:797
Warburg Micro Syndrome 4
Short stature, Microphthalmia, Severe postnatal growth retardation OMIM:615663
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Patent ductus arteriosus OMIM:611962
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis, Atrial septal defe... OMIM:229850
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Splenomegaly, Edema, Erythroid hype... ORPHA:95159
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy ORPHA:100093
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Somatostatinoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Hypochromic microcyti... ORPHA:97283
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Cardiomyopathy, Hydronephros... ORPHA:373
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
15Q Overgrowth Syndrome
Abnormal renal morphology, Hydronephrosis, Nephroblastoma, Ureterovesical stenosis, Horseshoe kidney ORPHA:314585
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:248700
Blomstrand Lethal Chondrodysplasia
Hydrops fetalis, Polyhydramnios, Premature birth ORPHA:50945
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Patent ductus arteriosus, V... OMIM:616975
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Gastroesophageal reflux, Episodic vomiting, Camptodactyly, Constipation, Feeding difficulties, At... OMIM:617360
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Aortic root aneurysm, Patent foramen ovale, Scapular winging, Congeni... OMIM:615582
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot, Pulmonary artery atresia ORPHA:1908
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Seckel Syndrome 9
Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect, Pulmonary arter... OMIM:616777
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Hypoplasia of penis, Dandy-Walker malformation, Uterus didelphys, Urethrovaginal... ORPHA:93271
Brachytelephalangic Chondrodysplasia Punctata
Gastroesophageal reflux, Pulmonary artery stenosis, Feeding difficulties, Patent ductus arteriosu... ORPHA:79345
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Orofaciodigital Syndrome Type 1
Vascular dilatation, Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinur... ORPHA:2750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Flexion c... OMIM:227645
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal pericardium morphology, Tetralogy of Fallot, Atrial sep... ORPHA:1335
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia OMIM:617306
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Encopresis, Gastroesophageal reflux, Intestinal malrotation, Constipation, Volvulus, Cerebral hem... OMIM:616682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Meckel diverticulum, Shoulder muscle hypoplasia, Leukocyto... OMIM:274000
Ileal Neuroendocrine Tumor
Pulmonic stenosis, Hydronephrosis, Tricuspid stenosis ORPHA:100078
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Duplicated collecting system ORPHA:541423
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hydrops fetalis, Polyhydramnios, Fetal polyuria, Premature birth, Edema OMIM:602522
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Chronic diarrhea, Eosinophilia, Cor pulmonale OMIM:158310
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bruising susceptibility OMIM:605735
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Zollinger-Ellison Syndrome
Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Epis... ORPHA:913
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia, Feeding difficulties, Dilated car... ORPHA:261250
Gaisböck Syndrome
Coronary artery atherosclerosis, Stroke, Hypernatriuria, Nephrocalcinosis, Peripheral arterial st... ORPHA:90041
Goodpasture Syndrome
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Anemia, Glomerular crescent form... OMIM:233450
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Neurogenic bladder, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid a... OMIM:617137
Down Syndrome
Aganglionic megacolon, Atrioventricular canal defect, Gastroesophageal reflux, Macroglossia, Acut... ORPHA:870
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... OMIM:122470
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Anemia, Splenomegaly, Malabsorption ORPHA:2796
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Carotid artery tortuosity, Bladder diverticulum OMIM:304150
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis OMIM:615812
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Aortic root aneurysm, Ascending tubular a... OMIM:154700
Microsporidiosis
Pancreatitis, Cholangitis, Lymphadenitis, Biliary tract abnormality, Decreased proportion of CD4-... ORPHA:2552
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Temtamy Syndrome
Microphthalmia OMIM:218340
Maternal Phenylketonuria
Esophageal atresia, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double ... ORPHA:2209
Chromosome 14Q11-Q22 Deletion Syndrome
Gastroesophageal reflux, Patent foramen ovale, Feeding difficulties, Patent ductus arteriosus, Ve... OMIM:613457
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery atherosclerosis, Renal artery atherosclerosis, Cardiomyopathy, Coronary artery st... ORPHA:565612
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Pulmonic stenosis, Secundum atrial septal defect, Hydronephro... OMIM:616268
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosi... OMIM:608328
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Yunis-Varon Syndrome
Hydrops fetalis, Polyhydramnios, Hypospadias, Cerebellar vermis hypoplasia, Patent foramen ovale,... OMIM:216340
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Reynolds Syndrome
Gastrointestinal hemorrhage, Steatorrhea, Calcinosis, Lip telangiectasia, Raynaud phenomenon, Spl... OMIM:613471
Von Hippel-Lindau Disease
Myocarditis, Elevated urinary catecholamine level, Stroke, Renal cell carcinoma, Cardiomyopathy, ... ORPHA:892
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Abnormal renal morphology, Patent foramen ovale, Hypertrophic cardiomyo... ORPHA:363700
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Bradycardia, Poor suck, Hypertension, Retinal hemorrhage, Feeding diffic... OMIM:614653
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Ppoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... ORPHA:97278
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Gastroesophageal reflux, Chronic diarrhea, Exocrine pancre... OMIM:618268
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Moebius Syndrome
Microphthalmia OMIM:157900
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Aplasia of the left hemidiaphragm, Pulmonary arteria... OMIM:620025
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction OMIM:618975
Menkes Disease
Spontaneous hematomas, Gastrointestinal hemorrhage, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:565
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Anorexia, Pulmonary embolism, Gastrointestinal hemorrhage, Hypertension, Esophageal varix, Cerebr... ORPHA:394
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Duodenal atresia, Patent foramen ovale, Patent ductus arteriosus, Double... OMIM:301043
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification OMIM:616298
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Coloboma, Lacrimal duct atresia, Synophrys, Cataract, Cryptorchidism, Micropenis, Hy... OMIM:603457
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Subv... OMIM:614114
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Pulmonary artery atresia, Tricuspid regurgitation, Camptodactyly, Patent du... OMIM:616894
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Gastroesophageal reflux, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defe... OMIM:300998
Meckel Syndrome, Type 6
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst OMIM:612284
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopathy, Abnormal ao... ORPHA:217085
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Thrombocytosis, Macrocy... OMIM:105650
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Codas Syndrome
Ventricular septal defect ORPHA:1458
C Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:211750
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Barrett e... ORPHA:1199
Acromelic Frontonasal Dysostosis
Telecanthus, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Ptosis, Downslanted... OMIM:603671
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Episodic vomiting, Patent foramen ovale, Rectoperineal fistula, Coarctation of aorta, Tetralogy o... OMIM:618748
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... ORPHA:649
Turner Syndrome Due To Structural X Chromosome Anomalies
Renal hypoplasia/aplasia, Horseshoe kidney, Ectopic kidney, Gastrointestinal angiodysplasia, Aort... ORPHA:99413
Mosaic Monosomy X
Renal hypoplasia/aplasia, Horseshoe kidney, Ectopic kidney, Gastrointestinal angiodysplasia, Aort... ORPHA:99228
Monosomy X
Renal hypoplasia/aplasia, Horseshoe kidney, Ectopic kidney, Gastrointestinal angiodysplasia, Aort... ORPHA:99226
Turner Syndrome
Renal hypoplasia/aplasia, Horseshoe kidney, Ectopic kidney, Gastrointestinal angiodysplasia, Aort... ORPHA:881
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Grfoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... ORPHA:97261
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Hydronephrosis, Hypoplasia of penis ORPHA:847
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopathy, Abnormal ao... ORPHA:217093
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve, Chordee, Hypospadias OMIM:176690
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Abdominal distention, Gastrointestinal atresia, Rectal abscess, Bloo... ORPHA:436252
Mody
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst ORPHA:552
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Iris coloboma, Telecanthus, Microcornea, Ptosis, Eyelid coloboma, Ca... OMIM:229400
Mandibulofacial Dysostosis, Guion-Almeida Type
Feeding difficulties in infancy, Atrial septal defect, Ventricular septal defect, Esophageal atresia OMIM:610536
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal d... OMIM:264480
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Aortic aneurysm, Truncus arteriosus, Bowel incontinence, Pyloric stenosis, ... ORPHA:261330
Vacterl With Hydrocephalus
Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida ORPHA:3412
Donnai-Barrow Syndrome
Intestinal malrotation, Ventricular septal defect, Congenital diaphragmatic hernia, Diaphragmatic... OMIM:222448
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Palpebral edema, Ureteral duplication, Telecanthus, Breast aplasia, Re... ORPHA:2036
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Encephalocele OMIM:613451
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Cephalohematoma, Ventricular septal defect, Patent ductus arteriosus OMIM:620558
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Knobloch Syndrome 1
Duplicated collecting system, Renal duplication, Hydronephrosis, Bifid ureter, Patent ductus arte... OMIM:267750
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Hydronephrosis ORPHA:101000
Melnick-Needles Syndrome
Tricuspid valve prolapse, Hydronephrosis, Mitral valve prolapse, Ureteral stenosis OMIM:309350
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas, Patent ductus arteriosus OMIM:618162
Leigh Syndrome
Congestive heart failure, Anemia, Neutropenia, Multiple joint contractures, Hypertrophic cardiomy... ORPHA:506
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Patent ductus arteriosus OMIM:616300
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Pericardial effusion, Mitral valve prolapse, Caro... ORPHA:536532
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia ORPHA:3404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Atrial s... ORPHA:96334
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Atrial septal defect, Micropenis OMIM:269150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... ORPHA:93111
Alagille Syndrome
Hypertension, Telangiectasia of the skin, Atrial septal defect, Ventricular septal defect, Periph... ORPHA:52
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Hypospadias, Ectopic kidney, Aortic root aneurysm, Noncompaction cardiomyop... OMIM:607872
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Immunoglobulin A Vasculitis
Anorexia, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Purpura, Abdominal pain, Vas... ORPHA:761
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis, Tetralogy of Fallot, ... OMIM:135900
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Left ventricular noncom... OMIM:300967
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Intussu... OMIM:112200
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Abnormal left ventricle morphology, Gastroesophageal reflux, Patent ductus ... ORPHA:466791
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Bohring-Opitz Syndrome
Gastroesophageal reflux, Camptodactyly, Intestinal malrotation, Feeding difficulties, Flexion con... OMIM:605039
Den Hoed-De Boer-Voisin Syndrome
Gastroesophageal reflux, Lactose intolerance, Death in adolescence, Constipation, Dysphagia, Vent... OMIM:619229
16P13.11 Microdeletion Syndrome
Gastroesophageal reflux, Camptodactyly of finger, Feeding difficulties, Atrial septal defect, Ven... ORPHA:261236
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Decreased eosinophil count, Pheochromocytoma, Lymphopenia, Leukoc... ORPHA:99889
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:604292
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Renal cyst, Ptosis, Hyperechogenic kidneys, Splenomegaly OMIM:615636
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Telecanthus, Heterochromia iridis, Abnormal eyebrow morphology, Splenomegaly, Hypog... ORPHA:163746
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Microphthalmia, Anencephaly, Encephalocele OMIM:619148
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Hydronephrosis, Absent pulmonary artery OMIM:610682
Hajdu-Cheney Syndrome
Hypospadias, Aortic valve stenosis, Mitral stenosis, Multiple renal cysts, Patent ductus arterios... ORPHA:955
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopathy, Abnormal ao... ORPHA:580
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp... ORPHA:261552
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Multicystic kidney dysplasia, Patent ductus arte... OMIM:300373
Sotos Syndrome
Abnormality of the kidney, Ureteral duplication, Hypospadias, Aortic aneurysm, Phimosis, Vesicour... ORPHA:821
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena... OMIM:258040
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261537
Degcags Syndrome
Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic anemia, Oral-ph... OMIM:619488
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Frontometaphyseal Dysplasia
Ureteral obstruction, Abnormal heart morphology, Hydronephrosis, Urethral stenosis ORPHA:1826
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Robinow Syndrome, Autosomal Recessive 1
Hypospadias, Nephrolithiasis, Abnormal heart morphology, Hydronephrosis, Renal duplication, Nephr... OMIM:268310
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nasogastric tube feeding in infancy, Ventricular septal defect, Patent ductus arteriosus OMIM:106260
Cerebrocostomandibular Syndrome
Ventricular septal defect, Multicystic kidney dysplasia ORPHA:1393
Familial Thrombocytosis
Transient ischemic attack, Peripheral arterial stenosis ORPHA:71493
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Feeding difficulties ORPHA:217346
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Hip contracture, Kn... OMIM:178110
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Chalazion, Patent ductus arteriosus OMIM:613355
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Nephrotic syndrome, Hydronephrosis, Mitral valve prolapse, Atrial septa... OMIM:601776
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Aortic aneurysm, Abnormal heart morphology, Left ventricular hypertroph... OMIM:612289
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Simplified gyral pattern, ... OMIM:617062
Kawasaki Disease
Cervical lymphadenopathy, Jaundice, Leukocytosis, Thrombocytosis, Hepatitis, Cholecystitis ORPHA:2331
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:603467
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Paten... ORPHA:2152
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Fanconi Anemia, Complementation Group N
Aplastic anemia, Atrial septal defect, Ventricular septal defect, Acute myeloid leukemia OMIM:610832
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration, Hepatomegaly ORPHA:97292
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous a... OMIM:147060
Schinzel-Giedion Syndrome
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Abnormal heart morphology, H... ORPHA:798
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Renal agenesis, Vaginal at... OMIM:273395
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus ORPHA:96191
Cohen Syndrome
Ventricular septal defect, Feeding difficulties in infancy, Mitral valve prolapse, Neutropenia ORPHA:193
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly ORPHA:667
Raine Syndrome
Hydronephrosis, Hydroureter OMIM:259775
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephroli... OMIM:608594
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hematuria, Hypospadias, Aortic aneurysm, Dilatation of the cerebral artery, Bicuspid aortic valve... OMIM:619475
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Diarrhea, Hypotension... ORPHA:90062
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephroli... OMIM:269700
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:617729
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Colonic atresia, Arrhythmia, Overri... OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Martsolf Syndrome 1
Short stature, Microphthalmia OMIM:212720
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Cranioectodermal Dysplasia 1
Stage 1 chronic kidney disease, Chronic kidney disease, Bicuspid aortic valve, Hepatic cysts, Sta... OMIM:218330
Bardet-Biedl Syndrome
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Cardiomyopathy, Nephrotic syndrom... ORPHA:110
Generalized Arterial Calcification Of Infancy
Fetal distress, Hydrops fetalis, Polyhydramnios, Ventricular hypertrophy, Ascites, Pericardial ef... ORPHA:51608
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Tricuspid regurgitation, Camptodactyly of toe, Camptodactyly of finger,... ORPHA:261337
Mowat-Wilson Syndrome
Abnormality of the kidney, Hypospadias, Pulmonic stenosis, Pulmonary artery stenosis, Abnormal he... OMIM:235730
Coffin-Siris Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Feeding difficulties, Patent ductus arteriosus, H... ORPHA:1465
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Camptodactyly, Aortic valve stenosis, Pericardial effu... OMIM:139210
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Eec Syndrome
Renal hypoplasia/aplasia, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Urethral atresia ORPHA:1896
Scleromyxedema
Paraproteinemia ORPHA:167635
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency OMIM:208500
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Noonan Syndrome 1
Abnormal bleeding, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypertroph... OMIM:163950
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Esophageal atresia, Tracheoesophageal fistula, Pulmonary artery stenosis... OMIM:301030
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Atypical Werner Syndrome
Premature arteriosclerosis, Renal neoplasm, Coronary artery atherosclerosis, Abnormality of the p... ORPHA:79474
Cousin Syndrome
Hydronephrosis OMIM:260660
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vas... ORPHA:637
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease... ORPHA:77293
Marshall-Smith Syndrome
Death in childhood, Hypertension, Premature ventricular contraction, Pulmonary arterial hypertens... OMIM:602535
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Dubowitz Syndrome
Hydronephrosis, Hypospadias ORPHA:235
White-Kernohan Syndrome
Hydronephrosis, Hydroureter, Horseshoe kidney OMIM:619426
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:99880
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:129900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ... OMIM:614947
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Flexion contracture, Accessory spleen OMIM:619306
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Ellis Van Creveld Syndrome
Acute leukemia, Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal hea... ORPHA:289
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Microphthalmia OMIM:257850
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Camptodactyly of finger, Feeding difficulties, Patent ductus arter... ORPHA:3047
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature... OMIM:206900
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Microphthalmia, Short stature, Hypoplasia of the iris OMIM:251300
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Intellectual Developmental Disorder, Autosomal Dominant 42
Ureteropelvic junction obstruction, Neurogenic bladder, Hydronephrosis OMIM:616973
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:143
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Vascular dilatation, Hypospadias, Aortic aneurysm, Abnormal heart valv... ORPHA:286
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Kaufman Oculocerebrofacial Syndrome
Intestinal malrotation, Constipation, Coarctation of aorta, Atrial septal defect, Ventricular sep... OMIM:244450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Gastroesophageal reflux, Aortic root aneurysm, Patent foramen ovale, Pu... ORPHA:444077
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele OMIM:253800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Tetral... OMIM:107480
Peutz-Jeghers Syndrome
Rectal prolapse, Iron deficiency anemia, Abdominal pain, Bloody diarrhea, Hamartomatous polyposis... OMIM:175200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:618019
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, ... OMIM:123700
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis, Ebstein anomaly of the ... ORPHA:506358
Hydrolethalus Syndrome 1
Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Hydronephrosis OMIM:236680
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal d... ORPHA:209905
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Pulmonic stenosis, Renal hypoplasia, Hydronephrosis, Patent du... OMIM:261540
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Hepatomegaly, Downslanted palpebral fissures, Splenomegaly, Vaginal atresia, Ep... OMIM:617088
Keutel Syndrome
Miscarriage, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Ventricular septal def... OMIM:245150
Holoprosencephaly
Congenital diaphragmatic hernia, Gastroesophageal reflux, Abnormal aortic morphology, Constipatio... ORPHA:2162
Opitz Gbbb Syndrome
Rectourethral fistula, Ventricular septal defect, Dysphagia, Gastroesophageal reflux OMIM:300000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Bruising susceptibility, Arterial rupture OMIM:225400
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Atrial septal defect, Ventricular septal defect, Mi... OMIM:606170
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Otopalatodigital Syndrome, Type Ii
Dilatation of the sinus of Valsalva, Atrial septal defect, Hydronephrosis, Hypospadias OMIM:304120
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Pyloric stenosis, Camptodactyly of finger, Arrhythmia, Ve... ORPHA:3138
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Reduced renal corticomed... OMIM:266920
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Pulmonic stenosis, Skeletal muscle atrophy, Ventricular septal defect, Macroglossia ORPHA:488632
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Orofaciodigital Syndrome V
Ventricular septal defect, Aganglionic megacolon, Tetralogy of Fallot, Feeding difficulties OMIM:174300
Doors Syndrome
Hydronephrosis, Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Double outle... ORPHA:79500
Postinfectious Vasculitis
Increased circulating antibody level, Increased circulating IgA level, Viral hepatitis, Cryoglobu... ORPHA:48435
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infections, Dilatation of renal ... ORPHA:3455
Neu-Laxova Syndrome 1
Stillbirth, Transposition of the great arteries, Patent foramen ovale, Camptodactyly, Neonatal de... OMIM:256520
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Incontinentia Pigmenti
Short stature, Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Vascular dilatation, Hypospadias, Urethrovaginal fi... OMIM:243800
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Splenomegaly, Abnormality of the liver ORPHA:90340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos OMIM:236670
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular sept... ORPHA:1519
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Cardiomyopathy, Hydronephrosis, Patent ductus arteriosus, Renal d... ORPHA:480880
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia OMIM:608940
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect, Aortic regurgitation, Limb hypertonia OMIM:609460
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Aprosencephaly OMIM:601374
Codas Syndrome
Atrioventricular canal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defec... OMIM:600373
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal renal tubular acidosis, Distal ... ORPHA:2785
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Zttk Syndrome
Atrial septal defect, Aortic regurgitation, Chronic diarrhea, Feeding difficulties, Flexion contr... OMIM:617140
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Microphthalmia, Severe short stature ORPHA:85167
Leptospirosis
Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytopenia, Hepatitis ORPHA:509
Frank-Ter Haar Syndrome
Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral valve prolapse, Double... OMIM:249420
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Jacobsen Syndrome
Pyloric stenosis, Thrombocytopenia, Flexion contracture, Atrial septal defect, Ventricular septal... OMIM:147791
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Campomelic Dysplasia
Abnormal heart morphology, Hypospadias, Hydronephrosis OMIM:114290
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Anemia, Pulmonary bulla, Repeated pneumothoraces, Arterial rupture, Comb... OMIM:130050
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida, Proportionate short stature OMIM:234100
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect OMIM:271640
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Aganglionic megacolon, Tetralogy of Fallot, Patent ductus arteri... OMIM:154400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Feeding difficulties, Atria... OMIM:607721
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve OMIM:613563
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:614083
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Vesicoureteral reflux, Right ventricular hypertrophy, Partial... OMIM:150230
Fanconi Anemia, Complementation Group E
Short stature, Microphthalmia OMIM:600901
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus, Vesicoureteral reflux ORPHA:2363
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary arterial hypertensio... OMIM:143095
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Umbilical hernia ORPHA:2166
Monosomy 22Q13.3
Renal dysplasia, Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux ORPHA:48652
Momo Syndrome
Short stature, Bilateral microphthalmos ORPHA:2563
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Hydronephrosis OMIM:620330
2Q31.1 Microdeletion Syndrome
Short stature, Microphthalmia ORPHA:251014
Mosaic Trisomy 20
Abnormal mitral valve morphology, Ventricular septal defect, Chronic constipation, Dysplastic tri... ORPHA:1724
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Fanconi Anemia, Complementation Group A
Short stature, Microphthalmia OMIM:227650
Meier-Gorlin Syndrome 7
Meconium peritonitis, Heart block, Duodenal stenosis, Atrial septal defect, Ventricular septal de... OMIM:617063
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Trichinellosis
Increased circulating IgE level ORPHA:863
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Gastrointestinal telangiectasia, Bone marrow hypocellularity, Thr... OMIM:612199
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Plague
Hematemesis, Anorexia, Abnormal bleeding, Diarrhea, Abdominal pain, Bloody diarrhea, Hypotension,... ORPHA:707
Rabson-Mendenhall Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomyopathy, Macroglossia ORPHA:769
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Ventricular septal defect, Pulmonary artery atresia, Gastroesophag... OMIM:620568
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine... ORPHA:93325
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1587
Cherubism
Submandibular lymph node enlargement OMIM:118400
Trisomy 10P
Abnormality of the kidney, Abnormal heart morphology, Multiple renal cysts ORPHA:171929
Incontinentia Pigmenti
Short stature, Microphthalmia, Hypoplasia of the fovea OMIM:308300
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Anemia, Gastroesophageal reflux, Vomiting, Tetralogy of Fallot, Splen... OMIM:619525
Hutchinson-Gilford Progeria Syndrome
Abnormal aortic valve morphology, Stroke, Ventricular hypertrophy, Transient ischemic attack, Mit... ORPHA:740
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Abdominal pain, Vomiting, Nausea, Malnutrition OMIM:229600
Fanconi Anemia
Microphthalmia, Spina bifida, Growth delay, Short stature, Umbilical hernia, Intrauterine growth ... ORPHA:84
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature OMIM:127000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2636
Renpenning Syndrome 1
Situs inversus totalis, Death in childhood, Poor suck, Camptodactyly, Tetralogy of Fallot, Atrial... OMIM:309500
Cockayne Syndrome B
Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Severe short stature, Intra... OMIM:133540
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Costello Syndrome
Rhabdomyosarcoma, Poor suck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Pyloric stenosis, Ac... OMIM:218040
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Gastroesophageal reflux, Poor suck, Ventricular septal defect, Aortic valve... ORPHA:268261
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Bacterial endocarditis, Mitral valve calcification, Aortic valve calc... ORPHA:2072
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Feeding difficulties in infancy, Duod... OMIM:618846
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Abnormal intestine morphology, Diastasis recti, ... ORPHA:2369
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia OMIM:613884
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Singleton-Merten Syndrome 1
Aortic arch calcification, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcif... OMIM:182250
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Intrauterine growth retardation, Microphthalmia, Branchial cyst, Short stature OMIM:620186
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Hyperlipidemia, Recurr... ORPHA:64
Catel-Manzke Syndrome
Dextrocardia, Camptodactyly, Coarctation of aorta, Overriding aorta, Ventricular septal defect OMIM:616145
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Isolated Arrhinia
Microphthalmia ORPHA:1134
Rothmund-Thomson Syndrome, Type 2
Short stature, Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Short stature, Microphthalmia OMIM:227646
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Gastroesophageal reflux, Lower-limb joint contracture, Pulmonary artery stenosis, Dilatation of t... ORPHA:459070
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Gastroesophageal reflux, Camptodactyly, Contracture of the proxi... OMIM:301044
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Gastrostomy tube feeding in infancy, Patent ductus arteriosus ORPHA:434179
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Occipital meningocele OMIM:610828
Focal Dermal Hypoplasia
Bifid ureter, Ureteral duplication, Horseshoe kidney, Hydronephrosis OMIM:305600
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col... OMIM:157170
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract ORPHA:2273
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Severe short stature, Anophthalmia ORPHA:2526
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Neurofibromatosis Type 1
Arterial stenosis, Abnormality of the upper urinary tract ORPHA:636
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos, Severe short s... ORPHA:468631
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
African Trypanosomiasis
Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomegaly, Splenomegaly ORPHA:3385
Aicardi Syndrome
Delayed puberty, Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Short stature, Microphthalmia, True anophthalmia ORPHA:1106
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia, Desmoid tumors, Colon cancer, Intestinal bleeding, Adenomatous colonic po... ORPHA:261584
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia OMIM:608670
Mend Syndrome
Short stature, Microphthalmia ORPHA:401973
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele OMIM:610829
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Polymicrogyria, Secretory IgA deficiency, Decreased circulating IgG level, Simplified gyral patte... ORPHA:500150
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Atrial septal defec... ORPHA:199
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Pallister-Killian Syndrome
Hypospadias, Hypertrophic cardiomyopathy, Renal cyst, Aortic valve stenosis, Coarctation of aorta... OMIM:601803
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Anorexia, Peptic ulcer, Melena, Gastroesophageal reflux, Diarrhea, A... ORPHA:652
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615948
Fraser Syndrome 2
Microphthalmia OMIM:617666
Steinfeld Syndrome
Microphthalmia OMIM:184705
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microphthalmia OMIM:616734
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:258315
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Traboulsi Syndrome
Microphthalmia OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Monosomy 9P
Microphthalmia ORPHA:261112
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Witteveen-Kolk Syndrome
Microphthalmia, Short stature, Growth delay, Intrauterine growth retardation, Branchial fistula OMIM:613406
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Unilateral renal agenesis, Renal agenesis, Renal dysplasia, Atrial septal defect, Mu... OMIM:308205
Pallister-Hall Syndrome
Atrioventricular canal defect, Coarctation of aorta, Distal arthrogryposis, Patent ductus arterio... ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
C Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney ORPHA:1308
Branchiooculofacial Syndrome
Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt... OMIM:113620
Lowe Oculocerebrorenal Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:309000
Holoprosencephaly 1
Short stature, Microphthalmia OMIM:236100
Ulnar-Mammary Syndrome
Pyloric stenosis, Ventricular septal defect, Elbow flexion contracture, Arrhythmia OMIM:181450
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia OMIM:219000
Microphthalmia, Syndromic 1
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Renal hypoplasia, Bicuspid aortic valve OMIM:309800
Neurofibroma
Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Pmm2-Cdg
Abnormal renal tubule morphology, Hypertrophic cardiomyopathy, Nephrotic syndrome, Pericardial ef... ORPHA:79318
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris 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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