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Gene: Fnip1 MGI:2444668

Gene Summary

Name:

folliculin interacting protein 1

Synonyms:

A730024A03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased body weight	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.13×10^-05
increased lung compliance	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.00×10^-09
decreased airway resistance	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.64×10^-08
enlarged cecum	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
improved glucose tolerance	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.16×10^-05
decreased spleen weight	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.72×10^-12
decreased startle reflex	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.73×10^-05
abnormal pancreas morphology	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased heart weight	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
dilated aorta	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.09×10^-07
increased liver weight	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.65×10^-08
increased cardiac muscle contractility	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.32×10^-05
abnormal spine curvature	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.29×10^-05
decreased lung tissue damping	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	9.86×10^-06
abnormal skeletal muscle morphology	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased neutrophil cell number	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.76×10^-11
decreased heart rate	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.10×10^-20
abnormal cecum morphology	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
thrombocytosis	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.30×10^-05
decreased respiratory quotient	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.56×10^-06
increased freezing behavior	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	4.69×10^-07
decreased lymphocyte cell number	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.10×10^-12
decreased locomotor activity	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.23×10^-05
small spleen	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
dilated heart left ventricle	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.43×10^-13
decreased lung elastance	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	3.86×10^-06
abnormal mammary gland morphology	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
decreased lung tissue damping	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.18×10^-08
increased fasting circulating glucose level	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	3.26×10^-05
thick ventricular wall	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.17×10^-29
increased cardiac stroke volume	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.81×10^-23
abnormal heart morphology	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small thymus	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
enlarged heart	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lung elastance	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.12×10^-09
increased lung compliance	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	2.57×10^-05
abnormal inspiratory capacity	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	1.37×10^-06
increased thigmotaxis	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.45×10^-05
abnormal spleen morphology	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased heart left ventricle size	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.20×10^-14
abnormal thymus morphology	Fnip1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
increased circulating iron level	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.44×10^-07
increased fasting circulating glucose level	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.52×10^-09
decreased grip strength	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	8.74×10^-09
decreased red blood cell distribution width	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.78×10^-12
abnormal thymus morphology	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal inspiratory capacity	Fnip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.61×10^-09
enlarged thymus	Fnip1^{em1(IMPC)Ccpcz}	HOM	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.

X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Hind Leg and Hip

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XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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XRay Images Forepaw

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Human diseases caused by Fnip1 mutations

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

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

Human diseases associated with Fnip1 (1 diseases)
Human diseases predicted to be associated with Fnip1 (1494 diseases)

The table below shows human diseases associated to Fnip1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 93 And Hypertrophic Cardiomyopathy		Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park...	OMIM:619705

The table below shows human diseases predicted to be associated to Fnip1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans...	OMIM:619707
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park...	OMIM:619705
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Endocardial fibrosis	OMIM:235550
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ...	ORPHA:277
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly, Decreased ...	ORPHA:397596
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Secundum atrial septal defect, Decreased proportion of CD8-posit...	OMIM:611926
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Cerebral hemorrhage, Hepatosplenomegaly, Complete or near-comple...	OMIM:301081
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:102700
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect...	OMIM:620210
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, Decreased circulating t...	OMIM:182410
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo...	OMIM:618261
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Telangiectases of the cheeks	OMIM:615139
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:261740
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi...	OMIM:232300
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri...	OMIM:181350
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodeficiency 10	Decreased circulating IgG level, Hypoglycemia, Decreased circulating IgA level, Autoimmune hemoly...	OMIM:612783
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec...	OMIM:601495
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, El...	OMIM:620005
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Decreased circulating antibody level, Patent ductus arteriosus, ...	ORPHA:99811
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na...	OMIM:619802
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia, Distal amyotrophy	ORPHA:639
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Elevated circ...	OMIM:619048
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Recurrent hypoglycemia, Abnormal lymphocyte morphology, Decreased circulating antibo...	ORPHA:293978
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Facial hypotonia, Heart murmur, Shortened PR interval, Cardiomegaly,...	ORPHA:308552
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha...	OMIM:308240
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Myopathy, Hypoplas...	OMIM:612782
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut...	OMIM:614700
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphaden...	OMIM:209950
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Interface hepa...	OMIM:243150
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Abnormal cerebral vascular morphology, Transient isc...	ORPHA:3318
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Lower limb muscle weakness, Cryoglobulinemia	ORPHA:209004
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Myotonic Dystrophy 2	Decreased circulating IgG level, Sternocleidomastoid amyotrophy, Insulin insensitivity, Palpitati...	OMIM:602668
Agammaglobulinemia, X-Linked	Cor pulmonale, Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating I...	OMIM:300755
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa...	ORPHA:63273
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated...	OMIM:601859
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Sp...	ORPHA:824
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ...	ORPHA:137675
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Decreased muscle mass, Cardiomyopathy...	ORPHA:263297
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Skeletal muscle atrophy, Lower limb muscle weakness, Splenomegal...	OMIM:620632
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Failure to thrive, Generalized dystonia, Hypertrop...	OMIM:618235
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ...	ORPHA:206559
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Hepatosplenomegaly, Pancytopenia, Ataxia, Hepatomegaly, Elevated circulating C-react...	OMIM:615688
Lipodystrophy, Congenital Generalized, Type 4	Increased variability in muscle fiber diameter, Hyperinsulinemia, Hepatic steatosis, Hepatomegaly...	OMIM:613327
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Cervical ly...	OMIM:614034
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Colitis...	ORPHA:84064
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Rec...	ORPHA:20
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At...	OMIM:212138
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven...	OMIM:115197
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Scol...	OMIM:616276
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Autoi...	ORPHA:436159
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Lymphopenia, Decreased circulating IgA leve...	ORPHA:90362
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric...	OMIM:613507
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Ascites, Shock, Hyperglycemia, Leukocytosis, Cyanosis, Ab...	ORPHA:391673
Glycogen Storage Disease Iv	Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Ascites, Hepatosplen...	OMIM:232500
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231226
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Budd-Chiari syndrome, ...	OMIM:226300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Macroglossia, Eosinophilia, Joint contracture of the hand	OMIM:618523
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616910
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Intestinal pseudo-obstruction, Failure to thrive, Ventricular escape rhythm, Mitr...	OMIM:616201
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Thro...	OMIM:613101
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly, Hepatomegaly	ORPHA:100025
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:212065
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Ethanolaminosis	Cardiomegaly	OMIM:227150
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Aortic regurgitation, ...	OMIM:222470
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati...	OMIM:308230
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Sclerotic ve...	ORPHA:2905
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Ne...	OMIM:614470
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Myocardial eosinophilic infiltration, Neutrophilia, Myeloprol...	ORPHA:3260
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, Increased circulating ...	OMIM:243700
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Hepatomegaly, Autoimmu...	OMIM:603909
Lambert Syndrome	Cholestasis, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice, Decreased circula...	ORPHA:1296
Beta-Ketothiolase Deficiency	Hypotension, Hypoglycemia, Anorexia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyperammonemia,...	ORPHA:134
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ...	ORPHA:98912
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615577
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomega...	OMIM:614702
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Cor pulmonale, Abnormal T cell morphology	OMIM:215250
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased...	OMIM:300635
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cholelithiasis, Pancreatic hypoplasia, Contracture of the distal interp...	ORPHA:83617
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient ischemic attack, F...	ORPHA:365
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia	OMIM:307200
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:620532
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating crea...	OMIM:618775
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Lymphopenia, Ty...	ORPHA:100
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ga...	ORPHA:3287
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Increased circulating IgM level	ORPHA:37748
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr...	OMIM:618752
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula...	ORPHA:411593
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Second degree atrioventricular block, Lower limb muscle weakness, Pal...	ORPHA:79102
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
O'Sullivan-Mcleod Syndrome	Upper limb muscle weakness, Hand muscle weakness, Increased circulating antibody level, Intrinsic...	ORPHA:99965
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Reticular Dysgenesis	Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils	ORPHA:33355
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Decreased circulating IgA level, Decreased circulating antibody level, Atr...	OMIM:617744
Thrombocythemia 3	Ischemic stroke, Thrombocytosis	OMIM:614521
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve...	OMIM:601005
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, V...	OMIM:269920
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Myopathy	ORPHA:2571
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Tela...	OMIM:615934
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Gastroesophageal reflux, Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperact...	OMIM:617182
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Rhabdomyolysis, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia, Hypocalcemia...	ORPHA:94093
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level, Situs inversus totalis	OMIM:615872
Brucellosis	Arteritis, Hypersplenism, Weight loss, Anorexia, Hepatomegaly, Elevated circulating C-reactive pr...	ORPHA:1304
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy	OMIM:616500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Increased circu...	OMIM:618495
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy	OMIM:613158
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Gait dist...	OMIM:609286
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Flexion contracture, Transient hypogammaglobulinemia of infancy	OMIM:251240
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Sepsis In Premature Infants	Hypotension, Decreased liver function, Functional abnormality of the gastrointestinal tract, Leuk...	ORPHA:90051
Wiskott-Aldrich Syndrome	Increased circulating IgE level, Abnormal delayed hypersensitivity skin test, Lymphopenia, Decrea...	OMIM:301000
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear...	OMIM:212140
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ...	ORPHA:124
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ...	ORPHA:399103
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Leg muscle stiffness, Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhyth...	ORPHA:320360
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect, Neutropenia, Small ...	OMIM:105650
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ...	ORPHA:276580
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Hyperglycemia, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, We...	ORPHA:465508
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Anorexia, Splenomegaly, Hyperammonemia, Stroke, Lethargy, Anem...	ORPHA:79312
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Glucose intolerance, Joint contracture of the 5th fing...	OMIM:614407
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Hypertension	OMIM:616069
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Danon Disease	Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali...	OMIM:300257
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Abnormal circula...	ORPHA:79324
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C...	ORPHA:858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276575
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Celiac Disease, Susceptibility To, 1	Ataxia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Depres...	OMIM:212750
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal...	ORPHA:79330
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Combined Oxidative Phosphorylation Deficiency 15	Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Flexion contrac...	OMIM:618815
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona...	ORPHA:71493
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Dystonia, Bradycardia, Ventricular septal defect	OMIM:616277
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Vasculitis in the skin	ORPHA:90159
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato...	OMIM:606069
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep...	OMIM:615122
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur...	ORPHA:254361
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Palpitations, Mat...	ORPHA:324575
Autoerythrocyte Sensitization Syndrome	Self-injurious behavior, Epistaxis, Gastrointestinal hemorrhage, Depression, Impaired platelet ad...	ORPHA:324636
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing ...	OMIM:304790
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia...	OMIM:614654
Trimethylaminuria	Depression, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia	OMIM:608184
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:572
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with sub...	ORPHA:2331
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Skeletal muscle atrophy, Quadriceps muscle weakness, Difficulty walking,...	ORPHA:70
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane...	OMIM:612301
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Thrombocytopenia...	ORPHA:83313
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:42
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Splenomegaly, Dy...	OMIM:256550
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear...	OMIM:602390
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Beta-Thalassemia Major	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231214
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Anorexia, Jaundice, Tachycardia, Shock, Eleva...	ORPHA:99826
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Abnormal pancreas morphology, Congestive...	ORPHA:48818
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa...	OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Median cl...	ORPHA:40366
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Mirage Syndrome	Gastroesophageal reflux, Scoliosis, Hypoglycemia, Decreased testicular size, Lymphopenia, Leukope...	OMIM:617053
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Type I diabetes mellitus, Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Increased circulating interleukin 6 concentration, Cholestasis, Elevated circul...	OMIM:620376
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo...	OMIM:600649
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decr...	ORPHA:90045
Roifman Syndrome	Hepatosplenomegaly, Hip contracture, Noncompaction cardiomyopathy, Eosinophilia, Decreased circul...	ORPHA:353298
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hypoparathyroidism, Hepat...	ORPHA:699
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Periventricular Nodular Heterotopia	Aortic regurgitation, Gastroesophageal reflux, Abnormal heart valve morphology, Aortic aneurysm, ...	ORPHA:98892
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, V...	ORPHA:210122
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Right ventricular failure, Decreased circulating IgG1 level, Lymphopenia, De...	ORPHA:90363
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Autoimmune hemolytic anemia, Conjunctival telangiectasia, Dysgammaglobulinemia,...	OMIM:251260
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:619381
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocyt...	OMIM:618278
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Increased circul...	ORPHA:79230
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Cirrhosis, Elevated ju...	ORPHA:57777
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas...	ORPHA:90003
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr...	OMIM:300696
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia, Macrogloss...	OMIM:242860
Thrombocytopenia 1	Decreased mean platelet volume, Epistaxis, Increased circulating IgE level, Increased circulating...	OMIM:313900
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy, Hypoglycemia	OMIM:609016
Icf Syndrome	Lymphopenia, Anemia, Macroglossia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Retinal hemorrhage, Emotional lability, Neutrophilia, Hepatomegaly, Jaundice, Tachy...	ORPHA:99827
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Hypoglycemia, Decreased circulating IgA level, Patent foramen ov...	OMIM:607143
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy	OMIM:609500
Seckel Syndrome 10	Insulin resistance, Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glyc...	OMIM:617253
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Familial Aortic Dissection	Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection...	ORPHA:229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Cirrhosis, Increased circulating antibody level	OMIM:178500
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circul...	OMIM:615952
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Leukemi...	OMIM:210900
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Paraproteinemia, Decreased propo...	ORPHA:331235
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate...	OMIM:615486
Erythema Elevatum Diutinum	Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Coproporphyria, Hereditary	Depression, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:co...	OMIM:121300
Mhc Class Ii Deficiency 1	Cutaneous anergy, Panhypogammaglobulinemia, Biliary tract abnormality, Agammaglobulinemia, Neutro...	OMIM:209920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Stroke, Lymphadenopathy, Autoi...	ORPHA:444463
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Lethargy, Bradycardia, Prolonged neonatal jaundice, Macroglossia	ORPHA:95717
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane...	OMIM:224120
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper...	OMIM:115195
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia	OMIM:617173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven...	OMIM:615616
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather...	OMIM:132900
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Dilated cardiom...	OMIM:604286
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutr...	ORPHA:391487
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Depression, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia...	OMIM:301310
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anem...	OMIM:620565
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Elevated ...	ORPHA:79124
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Resting tremor, Shock, Lymp...	ORPHA:319213
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E...	ORPHA:98911
Giant Cell Arteritis	Vasculitis, Hepatic failure, Epistaxis, Mediastinal lymphadenopathy, Depression, Double outlet ri...	ORPHA:397
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Immunodeficiency 59 And Hypoglycemia	Arteritis, Hypoglycemia, Prolonged neonatal jaundice, Complete or near-complete absence of specif...	OMIM:233600
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Failure to thrive, Hypomethioninemia, Tremor, Lethargy, Pulmonary ...	OMIM:277400
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Vasculitis in t...	OMIM:615816
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly,...	ORPHA:381
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Hy...	ORPHA:51
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi...	ORPHA:75563
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega...	OMIM:619064
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, Eosinophili...	OMIM:226990
Bloom Syndrome	Insulin resistance, Decreased circulating IgG level, Decreased circulating IgA level, Acute lymph...	ORPHA:125
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Ascite...	ORPHA:2198
Tempi Syndrome	Polycythemia, Increased hematocrit, Telangiectasia, Increased circulating IgG level, Intracranial...	ORPHA:284227
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Elbow contracture, Knee flexion contracture, Atrial septal defect, Decreased ci...	OMIM:618162
Cap Myopathy	Increased variability in muscle fiber diameter, Aortic root aneurysm, Tip-toe gait, Sinus tachyca...	ORPHA:171881
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Paraproteinemia, Supravalvular aortic stenosis, Card...	ORPHA:439232
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Cardiomegaly, Aggressive behavior, Ovoid thoracolumbar vertebrae, Hyperactivity, He...	OMIM:252920
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi...	ORPHA:66529
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation...	ORPHA:91387
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Noonan Syndrome 12	Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Decreased response to growth hormone st...	OMIM:618624
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA...	OMIM:617099
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Difficulty walking, Hyperglycinemia, Action tremor, Hypomimic face, Hepatomegaly, Jaundice, Brady...	ORPHA:309854
Perlman Syndrome	High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly	ORPHA:2849
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype...	OMIM:619402
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Congenital contracture, Arthrogryposis multiplex congenita, Camptodact...	ORPHA:115
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incr...	ORPHA:101028
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir...	ORPHA:540
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Fatty replacement of skeletal muscle, Supraventricular tachycardia, Myopathy	OMIM:255100
Congenital Disorder Of Glycosylation, Type It	Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated circulating alanine aminot...	OMIM:614921
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr...	OMIM:609308
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Mitral regurgitation	OMIM:619750
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Viral hepatitis,...	ORPHA:183675
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Corneal neovascularization, Increas...	OMIM:617388
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Neonatal Lupus Erythematosus	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:398124
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Goiter, Lethargy, Abnormal circulating thyroglobulin concentration, ...	ORPHA:95716
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Hemolytic anemia, Leuko...	OMIM:603903
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Ascites, Tr...	ORPHA:615
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit...	OMIM:618886
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro...	ORPHA:507
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Propionic Acidemia	Failure to thrive, Cardiomyopathy, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, L...	OMIM:606054
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea...	OMIM:619657
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Sézary Syndrome	Skeletal muscle atrophy, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin le...	ORPHA:3162
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Hypoketot...	OMIM:610768
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent foramen ...	OMIM:620642
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Lissencephaly Syndrome, Norman-Roberts Type	Dysphagia, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Hsd10 Disease, Infantile Type	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cyanosis, Cardiomegaly, Loss of ambula...	ORPHA:391428
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscle fiber splitting, Right ventricular dilatat...	OMIM:253700
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos...	ORPHA:275
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Monosomy 18Q	Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Failur...	ORPHA:1600
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Patent ductus ...	OMIM:208540
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema...	ORPHA:2137
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar...	ORPHA:363705
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal...	ORPHA:26793
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
D-Glyceric Aciduria	Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Opisthotonus, Patent ductus arteriosus,...	OMIM:220120
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Vill...	OMIM:557000
Immunodeficiency 56	Hepatic failure, Panhypogammaglobulinemia, Chronic hepatitis due to cryptosporidium infection, Ci...	OMIM:615207
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Anisocytosis, Camptodactyly, Hepatomegaly, Flexion contracture	OMIM:604273
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ...	OMIM:616166
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Leg dystonia, Cryptorchidism, Loss of ambulation, Limb hypertonia, Bradycardia, Neo...	ORPHA:565624
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Myopathy, Cirrhosis, Ata...	ORPHA:14
Transient Neonatal Diabetes Mellitus	Failure to thrive, Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia...	ORPHA:99886
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Broad-based gait, Distal amyotrophy, Abnormal heart morphology, Failure to thrive in infancy, Foo...	ORPHA:477817
Aspergillosis	Hepatitis, Increased circulating IgE level, Eosinophilia, Neutropenia, Intracranial hemorrhage	ORPHA:1163
Arterial Tortuosity Syndrome	Aortic root aneurysm, Esophagitis, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Median c...	ORPHA:3342
Barth Syndrome	Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Myopathy, Neutropenia, Hep...	OMIM:612541
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ...	ORPHA:1677
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Fucosidosis	Macroglossia, Anterior beaking of thoracic vertebrae, Spastic gait, Failure to thrive, Cherry red...	OMIM:230000
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aortic aneurysm, Attention deficit hyperactivity...	ORPHA:261102
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se...	OMIM:265380
Sandhoff Disease	Skeletal muscle atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Orthost...	OMIM:268800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Resting tremor, Congestive hear...	ORPHA:3077
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Camptodactyly of finger, Flexion contracture of toe	ORPHA:3409
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormality of the shoulder girdle musculature, Renal artery atherosclerosis, Arrhythmia, Hepatom...	ORPHA:565612
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly	OMIM:605309
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level, Di...	ORPHA:169105
Stiff-Person Syndrome	Depression, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Lumbar hyperlordosi...	OMIM:184850
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency...	ORPHA:99931
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc...	OMIM:608836
Fragile X Syndrome	Self-injurious behavior, Gastroesophageal reflux, Mitral valve prolapse, Irritability, Attention ...	ORPHA:908
Simple Cryoglobulinemia	Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Congestive hear...	ORPHA:91139
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem...	OMIM:615468
Common Variable Immunodeficiency	Vasculitis, Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of ...	ORPHA:1572
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz...	OMIM:300908
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Abnormal calf musculature morphology, Leukocytosis	ORPHA:206594
Ring Chromosome 21 Syndrome	Abnormal heart morphology, Decreased circulating antibody level	ORPHA:1445
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is...	ORPHA:90065
Double Outlet Right Ventricle	Hypoplastic left heart, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Failure to th...	ORPHA:3426
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb...	ORPHA:171439
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ...	OMIM:617336
Congenital Fibrinogen Deficiency	Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Cyanosis, Opisthotonus, Left ventr...	ORPHA:335
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Stormorken Syndrome	Epistaxis, Howell-Jolly bodies, Stroke-like episode, Myopathy, Elevated circulating creatine kina...	OMIM:185070
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Failure to thrive, Increased circulating prolactin conce...	ORPHA:90674
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Goiter, Large for gestational age, Bradycardia, Prolonged neonatal jaundice, Macroglossia	ORPHA:226313
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy, Elevated circulating aspartate am...	OMIM:613752
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At...	OMIM:224700
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Arterial dissection, Abnormal venous morphology, Decreased muscle mass, Cong...	ORPHA:1900
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation, Diabetes me...	OMIM:604928
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Increased circulating an...	OMIM:114065
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro...	OMIM:617168
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con...	ORPHA:449432
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Congestive heart failure, Hypertrophic cardiomyopathy, Leukopenia, S...	OMIM:617303
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Cardiomyopathy, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Let...	OMIM:251000
Mass Syndrome	Ascending aortic dissection, Aortic aneurysm, Scoliosis, Mitral valve prolapse	OMIM:604308
Autosomal Agammaglobulinemia	Agammaglobulinemia, Hepatitis, Neutropenia	ORPHA:33110
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Abnormality of the pancreas	ORPHA:935
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Abnormal EKG, Congestiv...	OMIM:310200
Al Amyloidosis	Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal...	ORPHA:85443
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Conjunctival telangiectasia, Te...	ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Failure to thrive, Stroke-like episode, Opisthotonus, Pulmonary arterial...	OMIM:619272
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Granuloma, Ch...	ORPHA:562639
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar...	OMIM:613834
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Right bundle branc...	OMIM:616479
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Abnormal intestine morphology, Neutropenia, Ovoid vertebral bodies, Abnormal proport...	ORPHA:1830
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter...	ORPHA:422
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Camptodactyly of ...	ORPHA:2990
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re...	OMIM:620067
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Ankyloglossia, Hyperbilirubinemia, Hepatic steatosis, Emotional lability, Ventr...	OMIM:619475
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, Decreased liver function, Thrombocytopenia	ORPHA:67048
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast...	OMIM:613561
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis, Obesity, Hypoalbuminemia	ORPHA:88643
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobulated spleen, Te...	OMIM:601186
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Congestiv...	OMIM:620609
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ...	OMIM:619573
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Congenital contracture, Inability to walk, Cardiomegaly, Severe...	ORPHA:97297
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscle fiber atrophy, Protruding tongue, Decreased body weight, Arrhythmia, Dysphagia, Aspiration...	ORPHA:258
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Sheehan Syndrome	Secondary growth hormone deficiency, Hypoglycemia, Breast hypoplasia, Panhypopituitarism, Palpita...	ORPHA:91355
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Myositis, Leuke...	ORPHA:99867
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Dilated cardiomyopa...	OMIM:164310
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Kyphoscoliosis, Congestive heart failure	OMIM:300886
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Partial atrioventricular ...	OMIM:620423
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Cardiomyopathy, Hepatic steatosis, Myopathy	ORPHA:26792
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom...	OMIM:615352
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Mulibrey Nanism	Microglossia, Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatome...	OMIM:253250
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Normochromic microcytic anemia, Elevated circul...	OMIM:610198
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Anorexia, Lymphopenia, Splenomegaly, Hyponat...	ORPHA:549
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure to thrive, Acu...	OMIM:619644
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Myopathy, Myofibrillar, 6	Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy...	OMIM:612954
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Limb muscle weakness, Myopathy, Arrhythmia, Ataxia, Hypomimic face, Bradykinesia,...	ORPHA:254892
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef...	OMIM:270100
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto...	OMIM:609452
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio...	ORPHA:99104
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Failure to thrive, Exoc...	ORPHA:456312
Gaucher Disease, Perinatal Lethal	Hepatic failure, Arthrogryposis multiplex congenita, Ascites, Hepatosplenomegaly, Akinesia, Splen...	OMIM:608013
Alveolar Echinococcosis	Abnormal vertebral morphology, Biliary cirrhosis, Abnormality of the diaphragm, Cutaneous abscess...	ORPHA:284
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Elevated circulating hepatic transaminase concentration, Acute h...	OMIM:613070
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure...	ORPHA:3093
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Weight loss, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tach...	ORPHA:98849
X-Linked Agammaglobulinemia	Hepatitis, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess...	ORPHA:47
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral regurgitation, Mit...	OMIM:175050
Congenital-Onset Steinert Myotonic Dystrophy	Facial hypotonia, Bundle branch block, First degree atrioventricular block, Abnormal cardiac sept...	ORPHA:589821
Smith-Kingsmore Syndrome	Hypoglycemia, Decreased circulating IgA level, Diastasis recti, Thrombocytopenia	OMIM:616638
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Gastroesophageal reflux, Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hype...	OMIM:620070
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Cerebral ischem...	OMIM:242900
Esophageal Atresia	Abnormal vertebral morphology, Esophagitis, Abnormal gastrointestinal tract morphology, Oral aver...	ORPHA:1199
Tetanus	Tremor, Elevated circulating creatine kinase concentration, Opisthotonus, Dysphagia, Bradycardia,...	ORPHA:3299
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Broad-based gait, Absence of the pulmonary valve, Congestive ...	OMIM:601808
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Aspiration, Ventricular septal defect, Bradycardia, Retinal hemorrhage, ...	OMIM:614653
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts	OMIM:617425
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Abnormal large intestine morphology, Skeletal muscle atrophy, Arteriovenous malfor...	ORPHA:109
Lethal Congenital Contracture Syndrome 10	Narrow palate, Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiom...	OMIM:617022
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Depression, Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Limb muscle weakn...	OMIM:619259
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Abnormality of the liver, Glucose intolerance, Limb muscle weakness, Arrhyt...	OMIM:610131
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:232220
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, H...	OMIM:619825
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H...	ORPHA:263455
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating hepatic transaminase concentration, Decreased specific anti-polysaccharide a...	OMIM:614576
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Abnormal heart morphology, Decreased circulating IgA level, Atrial se...	ORPHA:369837
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular esc...	OMIM:108770
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypop...	ORPHA:449285
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a...	OMIM:249270
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo...	ORPHA:56
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody l...	ORPHA:319218
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Ventricular septal def...	OMIM:258900
Lateral Meningocele Syndrome	Decreased muscle mass, Cryptorchidism, Biconcave vertebral bodies, Ventricular septal defect, Bic...	OMIM:130720
Developmental And Epileptic Encephalopathy 101	Gastroesophageal reflux, Third degree atrioventricular block, Opisthotonus, Bradycardia, Limb joi...	OMIM:619814
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Limb ataxia, Hyper...	OMIM:619051
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Beckwith-Wiedemann Syndrome	Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglyce...	ORPHA:116
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly, Hypoglycemia	OMIM:618838
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Tremor, Neutropenia, Bradycardia, Jaundice, Dystonia, Neonatal hypoglycemia, D...	OMIM:617248
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Abnormality of complement system, Congestive heart failure, Hypertrophic card...	ORPHA:2348
Pyoderma Gangrenosum	Myositis, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans...	ORPHA:1667
Glutamine Deficiency, Congenital	Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture	OMIM:610015
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Increased cir...	OMIM:617591
Ogden Syndrome	Torsade de pointes, Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aorti...	OMIM:300855
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ...	ORPHA:555874
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Cerebral vas...	OMIM:613179
Fetal Parvovirus Syndrome	Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia	ORPHA:295
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Gastroesophageal reflux, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia, E...	OMIM:608800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Calf muscle hypertrophy, ...	OMIM:613155
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy	OMIM:615119
Yellow Fever	Neutrophilia, Pancreatic hyperplasia, Shock, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Cardiomyopathy	ORPHA:1493
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin...	OMIM:606056
Glossopharyngeal Neuralgia	Depression, Oral-pharyngeal dysphagia, Syncope, Weight loss, Vascular dilatation, Bradycardia, Ja...	ORPHA:221098
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine ...	OMIM:251110
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Coronary artery atherosclerosis, Hypertension...	OMIM:608600
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Depression, Right ventricular failure, Pulmonary embolism, I...	ORPHA:70591
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec...	OMIM:618652
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired...	ORPHA:811
Cogan Syndrome	Aortic regurgitation, Vasculitis, Large vessel vasculitis, Leukocytosis, Thrombocytosis, Anemia	ORPHA:1467
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Self-injurious behavior, Obesity, Cryptorchidism, Dysmetria, Ventricular s...	ORPHA:96121
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure	ORPHA:2022
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ...	OMIM:618234
Lassa Fever	Shock, Jaundice, Increased circulating IgM level	ORPHA:99824
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Patent ductus arteriosus, Elevated circulating propionylcarn...	OMIM:277380
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Tricuspid regurgitation, Obesity, Mitral regurgitation, Cryptorchidism, Kyp...	ORPHA:404443
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Congestive heart failure, Abnormal ...	ORPHA:505248
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, High, narrow palate, Depression, Camptodactyly of finger, Ankyloglossia, Tr...	ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi...	ORPHA:352665
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia	OMIM:266500
Dextrocardia	Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverticulum, Abnormal EKG, Abnorma...	ORPHA:1666
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ...	OMIM:619656
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac...	ORPHA:980
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Calcification of the aorta, Splenomegaly, Mitral stenos...	OMIM:231005
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate...	OMIM:615234
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy	ORPHA:1177
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Limb hypertonia, Joint contracture, Bradycardia	OMIM:614498
Marfan Syndrome	Aortic root aneurysm, Slender build, Mitral regurgitation, Mitral valve prolapse, Cachexia, Aorti...	ORPHA:558
Alternating Hemiplegia Of Childhood	Failure to thrive, Cardiomyopathy, Abnormal T-wave, Oral-pharyngeal dysphagia, Anorexia, Cardiac ...	ORPHA:2131
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Dilated cardiomyopathy, Gastroesophage...	ORPHA:89842
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Cryptorchidism, Myopathy, Telangiectasia, Abnormal ...	ORPHA:1606
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Dilated cardiomyopathy, Cardiomyopathy, Conges...	OMIM:242840
Fucosidosis	Kyphosis, Failure to thrive, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly,...	ORPHA:349
Infant Acute Respiratory Distress Syndrome	Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia	ORPHA:70587
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism...	OMIM:613385
Cantu Syndrome	Platyspondyly, Congenital hypertrophy of left ventricle, Large for gestational age, Cuboid-shaped...	OMIM:239850
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Systemic Lupus Erythematosus 17	Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy...	OMIM:301080
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Spleno...	ORPHA:464329
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse, E...	ORPHA:309155
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Depression, Aortic ro...	ORPHA:449291
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Pancytopenia, Cryptorch...	OMIM:227646
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona...	ORPHA:500
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Lethargy, Bradycardia, Prolonged neonatal jaundice, Macroglossia, Th...	ORPHA:90673
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Insulin resistance, Gastroesophageal reflux, Failure to thrive, Decreased mu...	ORPHA:96182
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity...	OMIM:614437
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyo...	ORPHA:228308
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:79329
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Gastroesophageal reflux, Failure to thrive, Abnormal heart morphology, Atrioventricu...	ORPHA:453499
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myopathy, Elevated circu...	OMIM:617713
Mucopolysaccharidosis Type 3	Abnormal mitral valve morphology, Loss of ambulation, Ataxia, Hepatomegaly, Dysphagia, Hyperactiv...	ORPHA:581
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Granuloma, Anal fissure, Lymphopenia, Hepatosplenomegaly, H...	OMIM:618935
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Hyperbili...	OMIM:301068
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Decreased circulating complement factor B concentration, Insulin resi...	ORPHA:2298
Acquired Generalized Lipodystrophy	Insulin resistance, Abnormality of complement system, Insulin-resistant diabetes mellitus, Cardio...	ORPHA:79086
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Type I diabetes ...	ORPHA:227990
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate...	ORPHA:97214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c...	ORPHA:79083
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Aggressive...	OMIM:301039
Osteogenesis Imperfecta	Aortic root aneurysm, Enlarged vertebral pedicles, Mitral valve prolapse, Intestinal obstruction,...	ORPHA:666
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Emotional lability, Low frustration tolerance, Ventricular septal defect, Aggressive behavior, At...	OMIM:309520
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Bifid uvula, Ascending tubular aorta aneurysm, Arterial tortuosity	OMIM:132800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:369
Encephalitis Lethargica	Upper limb muscle weakness, Tremor, Lethargy, Bradycardia, Hyperventilation	ORPHA:83600
Autosomal Recessive Progressive External Ophthalmoplegia	Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, S...	ORPHA:254886
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Hypoglycemia, Arrhythmia	ORPHA:35
Relapsing Fever	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:91547
Mucolipidosis Ii Alpha/Beta	Mitral regurgitation, Lower thoracic interpediculate narrowness, Lumbar scoliosis, Hepatomegaly, ...	OMIM:252500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatitis, Inc...	ORPHA:37042
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de...	OMIM:616866
Scorpion Envenomation	Acute pancreatitis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bu...	ORPHA:466677
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,...	OMIM:617941
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Jaundice,...	ORPHA:319251
Distal Deletion 12Q	Obsessive-compulsive trait, Patent ductus arteriosus, Duodenal atresia, High, narrow palate, Cong...	ORPHA:96149
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy, Abnormality of the liver	ORPHA:391457
Feingold Syndrome 1	Accessory spleen, Interrupted aortic arch, Annular pancreas, Polysplenia, Ventricular septal defe...	OMIM:164280
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Aortic root aneurysm, Aortic dissection, Arterial ...	OMIM:614816
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Leukopenia, Leukocytosis, Lethargy, Addictive alcohol use, Neutrophilia, Elev...	ORPHA:36238
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ...	OMIM:619902
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus	OMIM:222100
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hyperglycemia, Absent gallbladder, Congenital diaphragmatic her...	OMIM:600001
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr...	OMIM:613876
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Portal vein hypo...	OMIM:619433
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Flexion contracture, Myopathy	OMIM:618237
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne...	ORPHA:329336
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Severe platyspondyly, Vascular dilatation, Hyperte...	OMIM:613320
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Fle...	OMIM:616897
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Immunodeficiency 31C	Protein-losing enteropathy, Skeletal muscle atrophy, Lymphopenia, Villous atrophy, Splenomegaly, ...	OMIM:614162
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Matthew-Wood Syndrome	Annular pancreas, Failure to thrive, Duodenal stenosis, Cryptorchidism, Congenital diaphragmatic ...	ORPHA:2470
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Depression, Restlessness, Increased fecal coproporphyrin 3, Abnormal f...	ORPHA:100924
Mody	Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc...	ORPHA:552
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary hypothyroidism, Hypoglycemia, Hypopituitarism, Decreased r...	ORPHA:226307
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Neonatal hypoglycemia, Diastasis recti	ORPHA:457485
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Cryptorc...	OMIM:619503
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Bone marrow hypocellularity, Annular pancreas, Abn...	ORPHA:2308
Down Syndrome	Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal d...	ORPHA:870
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Gracile Bone Dysplasia	Failure to thrive, Ascites, Ankyloglossia, Hypocalcemia, Asplenia, Hypoplastic spleen	OMIM:602361
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Slender build, Cryptorchidism, Ventricular septal defect, Atrial ...	OMIM:300967
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture	ORPHA:98896
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra...	OMIM:619472
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Feingold Syndrome	Annular pancreas, Abnormal form of the vertebral bodies, Abnormality of the spleen, Patent ductus...	ORPHA:1305
Mannosidosis, Alpha B, Lysosomal	Macroglossia, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody ...	OMIM:248500
Gm1 Gangliosidosis Type 1	Platyspondyly, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Cherry red spot of the macula,...	ORPHA:79255
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy	OMIM:520000
Temtamy Syndrome	Aortic aneurysm	ORPHA:1777
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Arrhythmia, Flexion contracture of finger, Elevated circulating C-reactive pro...	OMIM:256040
Tuberous Sclerosis Complex	Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Cardiac rhabdomyoma, Pu...	ORPHA:805
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased...	ORPHA:29073
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans...	ORPHA:445038
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Temtamy Syndrome	Aortic regurgitation, Aortic aneurysm, Self-mutilation	OMIM:218340
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat...	OMIM:613795
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver...	OMIM:615382
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Hepatic sinusoidal dilatation, Tricuspid regurgitation, Inability to walk, Retinal...	OMIM:620371
Gitelman Syndrome	Insulin resistance, Type I diabetes mellitus, Prominent U wave, Abnormal T-wave, Glucose intolera...	ORPHA:358
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Gastroesophageal reflux, Scoliosis	ORPHA:3137
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Congenital Enterovirus Infection	Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A...	ORPHA:292
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration...	ORPHA:228305
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmet...	OMIM:616263
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Broad-based gait, Dilated cardiomyopathy, Abnormal circulating lipid concentr...	OMIM:616541
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe...	ORPHA:93672
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Generalized dystonia, Pancytopenia, Gait ataxia, Irritability, Aggressive...	OMIM:618321
Moyamoya Disease 5	Moyamoya phenomenon, Ascending tubular aorta aneurysm	OMIM:614042
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Blau Syndrome	Xerostomia, Camptodactyly of finger, Large vessel vasculitis, Abnormality of the liver, Splenomeg...	ORPHA:90340
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Cryptorchidism, Overfriendliness, Ventricular septal defect, Hand muscle atrophy, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Cryptorchidism, Overfriendliness, Ventricular septal defect, Hand muscle atrophy, ...	ORPHA:363958
Sengers Syndrome	Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Thrombocytopenia, Cardiac...	OMIM:212350
Rin2 Syndrome	Aortic aneurysm, High palate, Scoliosis, Cryptorchidism	ORPHA:217335
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy	OMIM:618236
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Leukopenia, Abn...	ORPHA:297
Williams Syndrome	Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect...	ORPHA:904
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegal...	ORPHA:186
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial...	OMIM:613874
Isolated Anencephaly	Maternal diabetes, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Distal Deletion 19P	Tricuspid valve prolapse, Decreased circulating antibody level, Pulmonary valve atresia, Ventricu...	ORPHA:96129
Igg4-Related Kidney Disease	Arteritis, Decreased liver function, Increased circulating IgE level, Reduced circulating complem...	ORPHA:449395
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hemophagocytosi...	ORPHA:39812
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Type I diabetes ...	ORPHA:227982
Bohring-Opitz Syndrome	Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Intestinal malrotation, Bilater...	OMIM:605039
Fg Syndrome Type 1	Small pituitary gland, Broad-based gait, Gastroesophageal reflux, Abnormal large intestine morpho...	ORPHA:93932
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Simpson-Golabi-Behmel Syndrome	Polysplenia, Cardiomyopathy, Hypoglycemia, Camptodactyly of finger, Bundle branch block, Increase...	ORPHA:373
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Hypophosphatemic rickets, Ca...	OMIM:208000
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Congenital kyphoscoliosis, Aortic root aneurysm, Elbow flexion contractur...	OMIM:121050
Doors Syndrome	Narrow palate, Gastroesophageal reflux, Adrenal hyperplasia, Lumbar scoliosis, Double outlet righ...	ORPHA:79500
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital kyphoscoliosis, Subdural hemorrhage, Skeletal muscle atrophy, Difficulty walking, Arte...	ORPHA:536545
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Acute colitis, Elevated circulating creatinine concentration, ...	ORPHA:90038
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten...	OMIM:126320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f...	OMIM:258450
Developmental And Epileptic Encephalopathy 95	Arthrogryposis multiplex congenita, Inability to walk, Inappropriate laughter, Cryptorchidism, Mu...	OMIM:618143
Diabetic Embryopathy	Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Ventricular septal defe...	ORPHA:1926
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:246900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a...	ORPHA:2255
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart...	ORPHA:99901
Neonatal Marfan Syndrome	High, narrow palate, Abnormal cardiac ventricle morphology, Aortic root aneurysm, Tricuspid regur...	ORPHA:284979
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a...	OMIM:610168
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Weight loss, Neutropenia, Ataxia, Anorexia, Hepatomegaly, Elevate...	ORPHA:50918
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia	OMIM:616744
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Myositis, Abnormality of the...	ORPHA:93552
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome...	OMIM:203800
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Hypoplasia of the musculature, Small hypothenar eminence, Thenar muscle atr...	ORPHA:2463
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:156
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy	ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Congenital contracture, Arthrogryposis multiplex congenita, Sinus brady...	OMIM:618397
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Left ventricular noncompaction, Tricuspid regurgitation, Hypertrophic cardi...	OMIM:616501
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Fontaine Progeroid Syndrome	Cryptorchidism, Protruding tongue, Bicuspid aortic valve, Atrial septal defect, Patent ductus art...	OMIM:612289
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy...	ORPHA:119
Macs Syndrome	Dilation of Virchow-Robin spaces, Cryptorchidism, Decreased body weight, Aortic aneurysm, High pa...	OMIM:613075
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Limb hypertonia, Thrombocytopenia, General...	OMIM:617710
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Small for gestational age, Depression, Aortic root aneurysm, Generalized limb m...	OMIM:618891
Koolen-De Vries Syndrome	Narrow palate, Kyphosis, Failure to thrive, Aortic root aneurysm, Cryptorchidism, Ventricular sep...	OMIM:610443
Phace Association	Arterial stenosis, Lingual thyroid, Ventricular septal defect, Coarctation of aorta, Aortic aneur...	OMIM:606519
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, En...	ORPHA:2686
Primary Sjögren Syndrome	Normocytic anemia, Vasculitis, Biliary cirrhosis, Arteritis, Chronic active hepatitis, Reduced ci...	ORPHA:289390
Whim Syndrome	Abnormal neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Neutropenia, Decreased circulat...	ORPHA:51636
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Failure to thrive, Gastrointestinal inflammation, Bradycardia, Anemia, Ab...	ORPHA:79404
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy...	OMIM:262190
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Failure to thrive, Intestinal malrotation, Cryptorchidism, Congenital diaph...	OMIM:617602
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Double Outlet Left Ventricle	Failure to thrive, Cryptorchidism, Abnormal coronary artery course, Ventricular septal defect, Ca...	ORPHA:3427
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Shoulder girdle muscle weakness, Difficulty walking, Distal upper limb amyotroph...	ORPHA:600
Amyloidosis, Hereditary Systemic 1	Cardiomyopathy, Stroke-like episode, Limb ataxia, Tremor, Cardiomegaly, Orthostatic hypotension d...	OMIM:105210
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Gastroesophageal reflux, Cryptorchidism, Mitral valve prolapse, Ao...	OMIM:182212
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperventilation, Irritability, Lethargy, Hepatomegaly, Tachycardia	OMIM:229700
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arrhythmia, Ataxia, Hypertension	ORPHA:3222
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Camptodactyly, Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation	OMIM:619576
Holoprosencephaly	Gastroesophageal reflux, Abnormal form of the vertebral bodies, Hypoglycemia, Tetralogy of Fallot...	ORPHA:2162
Meckel Syndrome, Type 7	Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis...	OMIM:267010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Elevated circulating creatin...	OMIM:253800
Mucopolysaccharidosis Type 2	Abnormal mitral valve morphology, Arrhythmia, Hepatomegaly, Motor stereotypy, Abnormal heart morp...	ORPHA:580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele...	ORPHA:264580
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Increased circulating prolactin concentration, Cryptorchidism, Ventricular sept...	ORPHA:438213
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Stiff Person Spectrum Disorder	Falls, Paraspinal muscle hypertrophy, Difficulty walking, Lumbar hyperlordosis, Emotional labilit...	ORPHA:3198
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphology, Tricuspid regurgitat...	ORPHA:230851
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cyclic neutropenia...	OMIM:302060
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:616329
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Fa...	OMIM:618798
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Failure to thrive, Abnormal T-wave, Cryptorchidism, Mitral valve prolapse...	ORPHA:444072
Immunodeficiency 58	Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati...	OMIM:618131
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ...	ORPHA:392
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Neonatal hypoglycemia, Splenomegaly, Macrocytic anemia	OMIM:619046
Pontine Tegmental Cap Dysplasia	Failure to thrive, Dysmetria, Facial palsy, Head titubation, Dysphagia, Hemivertebrae, Ataxia, Sc...	OMIM:614688
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Bifid uvula, Arterial dissection, Aortic dissection, Camptodactyly of finge...	ORPHA:284984
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Decreased body weight, Bicu...	OMIM:616462
Intellectual Developmental Disorder, Autosomal Dominant 73	Tip-toe gait, Ankyloglossia, Pica, Cleft soft palate, Recurrent hand flapping, Cryptorchidism, Se...	OMIM:620450
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyo...	ORPHA:2394
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Congenital kyphoscoliosis, Aortic root aneurysm, Multiple joint contractures, Mitr...	ORPHA:536467
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Gastroesophageal reflux, Failure to thrive, Abnormal heart ...	ORPHA:95430
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Ventricular septal hypertrophy, Right bundle branch block, Pulmonary insuffic...	OMIM:619322
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen...	OMIM:619386
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Hyperinsulinemia, Gastrointestinal angiodysplasia, Hepatic s...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Hyperinsulinemia, Gastrointestinal angiodysplasia, Hepatic s...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Hyperinsulinemia, Gastrointestinal angiodysplasia, Hepatic s...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Hyperinsulinemia, Gastrointestinal angiodysplasia, Hepatic s...	ORPHA:881
Halperin-Birk Syndrome	Gastroesophageal reflux, Failure to thrive, Pseudobulbar paralysis, Inability to walk, Congenital...	OMIM:618651
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:618280
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Difficulty walking, Myopathy, Truncal ataxia, Scoliosis, Right ve...	ORPHA:369847
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Elbow flexion contracture, Transient hypogammaglobulinemia of in...	ORPHA:3132
Sweet Syndrome	Inflammation of the large intestine, Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leuk...	ORPHA:3243
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, General...	ORPHA:98908
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Roifman Syndrome	Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophi...	OMIM:616651
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Aortic root aneurysm, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Ve...	OMIM:620654
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Gastroesophageal reflux, Oculogyric crisis, Limb dystonia, Emotional ...	OMIM:608643
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Skeletal muscle atrophy, Obesity, Glucose into...	OMIM:219090
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Patent ductus arteriosus	OMIM:618223
Larsen Syndrome	Cervical kyphosis, Hypoplastic cervical vertebrae, Cryptorchidism, Ventricular septal defect, Aor...	OMIM:150250
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Stroke, Hyper...	ORPHA:760
Cockayne Syndrome Type 3	Vascular calcification, Elevated circulating hepatic transaminase concentration, Gastroesophageal...	ORPHA:90324
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Bifid uvula, Aortic root an...	OMIM:208050
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Pancytope...	OMIM:613989
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, T...	ORPHA:90037
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis...	OMIM:609008
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis	OMIM:618858
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral ...	ORPHA:75249
Fryns Syndrome	Joint contracture of the hand, Meckel diverticulum, Polysplenia, Intestinal malrotation, Large fo...	OMIM:229850
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Abnormal vertebral morphology, Platyspondyly, Scoliosis, Congenital kyphos...	ORPHA:536471
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Ragged-red muscle fibe...	OMIM:530000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Skeletal...	OMIM:615895
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Cardiomyopathy, Diabetes mellitus, Myopathy	ORPHA:1215
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Cardiomyopathy, Myopathy	OMIM:616549
Avian Influenza	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Congestive h...	ORPHA:454836
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Refsum Disease	Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy, Heart block	ORPHA:773
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Pancreatic calcification, Corona...	ORPHA:51608
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Zimmermann-Laband Syndrome 1	Gastroesophageal reflux, Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Splenomegaly...	OMIM:135500
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglyce...	OMIM:609069
Jacobsen Syndrome	Annular pancreas, Failure to thrive, Cryptorchidism, Ventricular septal defect, Atrial septal def...	OMIM:147791
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Venous insufficiency, Pol...	ORPHA:2969
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypoplasia of the musculature, Abnorma...	ORPHA:79328
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia, Pericardial effus...	OMIM:615846
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Glycosuri...	ORPHA:99885
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level, Abnormality of the extraocular...	ORPHA:449563
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, Re...	ORPHA:447
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Telangiectasia, Telangiectasia of the skin, Hepatomegaly, Generalize...	ORPHA:79279
Sotos Syndrome	Abnormal vertebral morphology, Cryptorchidism, Hip contracture, Ventricular septal defect, Atrial...	ORPHA:821
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, Hypoketotic hyp...	ORPHA:746
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Irritability, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Scoliosis, Motor s...	ORPHA:391307
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Anteriorly placed anus, Tricuspid regurgitation, Mitral valve prolapse, Dysp...	OMIM:612863
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Cyanosis, Weight loss, Anorexia, Elevated circulating C-reactive prot...	ORPHA:1302
Alkaptonuria	Aortic valve calcification, Intervertebral disk degeneration, Thickened Achilles tendon, Aortic a...	OMIM:203500
Spinocerebellar Ataxia Type 8	Ataxia, Depression, Limb ataxia, Gait ataxia, Dystonia, Dysphagia, Unsteady gait, Bradykinesia, A...	ORPHA:98760
Cartilage-Hair Hypoplasia	Cardiomyopathy, Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Neutropenia, ...	ORPHA:175
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:26791
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Peripheral pulmonary artery stenosis, Annular pancreas, ...	ORPHA:264450
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Illum Syndrome	Arthrogryposis multiplex congenita, Calcinosis, Bradycardia	OMIM:208155
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia	OMIM:610582
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu...	ORPHA:97292
Rett Syndrome, Congenital Variant	Gastroesophageal reflux, Scoliosis, Bruxism, Aspiration, Irritability, Tongue thrusting, Dystonia...	OMIM:613454
Atelosteogenesis Type I	Platyspondyly, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Scoliosis,...	ORPHA:1190
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ...	OMIM:231530
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Cholera	Hypovolemic shock, Hypotension, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Irr...	ORPHA:173
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesion...	OMIM:616395
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Trichinellosis	Increased circulating IgE level, Facial palsy, Retinal hemorrhage	ORPHA:863
Khan-Khan-Katsanis Syndrome	Failure to thrive, Tricuspid regurgitation, Lymphopenia, Patent foramen ovale, Patent ductus arte...	OMIM:618460
Noonan Syndrome 14	Aortic regurgitation, High, narrow palate, Hypertrophic cardiomyopathy, Lymphopenia, Cryptorchidi...	OMIM:619745
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia	OMIM:606176
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Atherosclerosis, In...	OMIM:151660
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Hepatic fibrosis, Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Inte...	OMIM:263520
Systemic Sclerosis	Intestinal bleeding, Telangiectasia, Dysphagia, Gastroesophageal reflux, Right ventricular failur...	ORPHA:90291
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Cardiomyopathy	OMIM:619003
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Hypertension, Left atrial enlargement, Pulmonary arteria...	OMIM:614008
Intellectual Developmental Disorder, X-Linked 112	Gastroesophageal reflux, Volvulus, Abnormal heart morphology, Right aortic arch, Cryptorchidism, ...	OMIM:301111
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypoglycemia, Acute hepa...	OMIM:616483
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial...	ORPHA:99050
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Crohn's disease, Peritonitis, Elevated circulating C-reacti...	OMIM:249100
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hepatic failure, Elevated circulating hepatic transaminase conce...	ORPHA:470
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Opitz Gbbb Syndrome	Gastroesophageal reflux, Rectourethral fistula, Cryptorchidism, Ventricular septal defect, Anal a...	OMIM:300000
Igg4-Related Pachymeningitis	Lower limb muscle weakness, Increased circulating IgG4 level, Reduced circulating complement conc...	ORPHA:449427
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Cholestasis...	ORPHA:247598
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Hepatomegaly, Atrial septal defect, Anemia, Patent ductus arteriosus	ORPHA:1842
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Splenomegaly, Abscess, Elevated circulating C-reactive protein conc...	OMIM:612852
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Tric...	OMIM:620306
Gaucher Disease	Aortic valve calcification, Pancytopenia, Increased circulating antibody level, Cirrhosis, Polycl...	ORPHA:355
Developmental And Epileptic Encephalopathy 38	Gastroesophageal reflux, Irritability, Limb hypertonia, Ataxia, Dystonia, Aspiration	OMIM:617020
Loeys-Dietz Syndrome 5	Bifid uvula, Aortic root aneurysm, Decreased muscle mass, Failure to thrive in infancy, Cleft sof...	OMIM:615582
Meacham Syndrome	Hypoplastic left heart, Accessory spleen, Aplasia of the right hemidiaphragm, Tetralogy of Fallot...	OMIM:608978
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne...	OMIM:614868
Yuan-Harel-Lupski Syndrome	Broad-based gait, Aortic root aneurysm, Failure to thrive, Gait ataxia, Ventricular septal defect...	OMIM:616652
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Cartilage-Hair Hypoplasia	Anal stenosis, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Narrow vertebral interpedicu...	OMIM:250250
Cutis Laxa, Autosomal Recessive, Type Iid	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Bilateral cryptorchidis...	OMIM:617403
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Platyspondyly, Aortic root aneurysm, Elbow flexion contracture, Congenital diaphragmatic hernia, ...	OMIM:245600
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of...	ORPHA:370959
Cantú Syndrome	Platyspondyly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cuboid-shaped verteb...	ORPHA:1517
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Cryptorchidism, Emotional lability, Ventricular septal defect, Bicuspid ao...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Cryptorchidism, Emotional lability, Ventricular septal defect, Bicuspid ao...	ORPHA:353277
Marfan Syndrome	Aortic regurgitation, Mitral annular calcification, Narrow palate, Aortic root aneurysm, Aortic d...	OMIM:154700
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Mania, Depression, Skeletal muscle atrophy, Lower limb muscl...	ORPHA:845
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal pulmonar...	ORPHA:1194
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Patent foramen ovale, Tremor, Limb hypertonia, Atrial septal defect, Exaggerated ...	OMIM:620327
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop...	ORPHA:159
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme...	OMIM:263200
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia...	OMIM:127550
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Dilation of Virchow-Robin spaces, Aspiration, Irritability, Dysphagia, Flexion contracture, Scoli...	ORPHA:2148
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Cocaine Intoxication	Rhabdomyolysis, Tachycardia, Mania, Intestinal perforation, Diffuse alveolar hemorrhage, Gastroin...	ORPHA:90068
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia, Macronodular adrenal hyperplasia, Depression	OMIM:615954
Hypothyroidism, Congenital, Nongoitrous, 2	Goiter, Hyperbilirubinemia, Lethargy, Bradycardia, Macroglossia, Thyroid hypoplasia, Increased ci...	OMIM:218700
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	ORPHA:247353
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Hypoglycemia, Cardiomyopathy, Decreased liver function	OMIM:618839
Congenital Generalized Lipodystrophy	Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepa...	ORPHA:528
Fanconi Anemia	Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Weight loss, Atrial ...	ORPHA:84
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a...	OMIM:151100
Von Hippel-Lindau Disease	Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Palpitations, Distal lower limb muscle ...	ORPHA:892
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Myocarditis, Hepatomegaly	ORPHA:3386
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Coccidioidomycosis	Vasculitis, Vasospasm, Granuloma, Abnormality of the spleen, Abnormality of the liver, Cerebral i...	ORPHA:228123
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Lymphopenia, Intention tremor, Dysmetria, Absent uvula, Knee...	OMIM:619708
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Epistaxis, Arterial dissection, Gastroesophageal reflux, Depression, Aortic ...	ORPHA:285
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co...	ORPHA:88630
Okur-Chung Neurodevelopmental Syndrome	Abnormal heart morphology, Decreased circulating IgG level, Decreased circulating IgA level, Decr...	OMIM:617062
Japanese Encephalitis	Skeletal muscle atrophy, Elbow flexion contracture, Increased circulating antibody level, Distal ...	ORPHA:79139
Alg1-Cdg	Abnormal heart morphology, Cardiomyopathy, Decreased liver function	ORPHA:79327
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Postinfectious Vasculitis	Bacterial endocarditis, Abnormality of humoral immunity, Cerebral vasculitis, Cardiomyopathy, Isc...	ORPHA:48435
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Lumbar hyperlordosis, Cryptorchidism,...	OMIM:616975
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co...	ORPHA:3097
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cryptorchidism, Cardiomegaly, Hepatoblas...	OMIM:130650
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal he...	ORPHA:217085
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Distal lower limb amyotrophy, Decreased circulating antibody level	ORPHA:79396
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Mitral regurgitation, Bicuspid aortic valve, Ataxia, Dysphagia, Bilateral superior...	OMIM:220111
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension...	ORPHA:90062
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Peripheral pulmonary artery stenosis, Small bowel diverticula, Congestive h...	ORPHA:90348
Infantile Refsum Disease	Hepatomegaly, Arrhythmia, Facial palsy, Cardiomyopathy	ORPHA:772
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Abnormality of the extraocular muscles, Myositis, Increased cir...	ORPHA:79078
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Pituitary growth hormone cell adenoma, Elevated circulating creatinine conc...	ORPHA:730
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Failure to thrive, Hyper...	OMIM:617506
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Insulin resistance, Prolonged PR interval, Dilated cardiomyopat...	ORPHA:273
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Type 1 muscle fiber...	OMIM:619036
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal he...	ORPHA:217093
Diarrhea 10, Protein-Losing Enteropathy Type	Pericardial effusion, Hematochezia, Decreased circulating antibody level	OMIM:618183
Wolfram Syndrome 1	Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus	OMIM:222300
Vascular Ehlers-Danlos Syndrome	Cryptorchidism, Mitral valve prolapse, Abnormal intestine morphology, High, narrow palate, Pulmon...	ORPHA:286
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:614582
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Difficulty walking, Ineffective esophageal peristalsis, Hypoventilation,...	OMIM:619482
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Diabetes mellitus, Skeletal muscle atrophy	ORPHA:96
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Hennekam Syndrome	Camptodactyly of finger, Lymphopenia, Splenomegaly, Pericardial effusion, Decreased circulating a...	ORPHA:2136
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, Prox...	ORPHA:280633
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bifid uvula, Self-injurious behavior, Failure to thrive, Muscular ventricul...	OMIM:612474
Paternal Uniparental Disomy Of Chromosome 6	Neonatal insulin-dependent diabetes mellitus, Cryptorchidism, Ventricular septal defect, Cardiome...	ORPHA:96191
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M...	OMIM:604377
Melas	Type I diabetes mellitus, Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiom...	ORPHA:550
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Ascites, Pheochromocytoma, Arrhythmia, ...	ORPHA:139411
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Cryptorchidism, Mitral valve prolapse, Thoracic scoliosis, Cervical C2/C3 v...	OMIM:618000
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Decreased liver function	ORPHA:79321
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Sel...	OMIM:618922
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Developmental And Epileptic Encephalopathy 75	Prolonged neonatal jaundice, Cardiomyopathy, Decreased liver function	OMIM:618437
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Abnormal morphology of the great vessels, Inability to walk, Ankyloglossia, Gai...	ORPHA:488642
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Microcolon, Ileal atresia, Peritonitis, Thoracic aortic aneurysm, Elevated p...	OMIM:619351
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to...	ORPHA:991
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra...	ORPHA:158687
Opitz Gbbb Syndrome	Aortic root aneurysm, Abnormal heart morphology, Ankyloglossia, Cryptorchidism, Patent foramen ov...	ORPHA:2745
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Depression, Failure...	OMIM:124000
Holt-Oram Syndrome	Cleft soft palate, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ve...	OMIM:142900
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A...	ORPHA:363618
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu...	ORPHA:368
Classical-Like Ehlers-Danlos Syndrome Type 2	Narrow palate, Aortic root aneurysm, Prominent veins on trunk, Varicose veins, Cryptorchidism, Mi...	ORPHA:536532
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Muscular dystrophy, Rhabdomyosarcoma, Ascites, Stomach cancer, Intestinal p...	ORPHA:1052
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leuk...	OMIM:274000
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Distal amyotrophy, Inability to walk, Exaggerated startle response, Flexion contracture, Scoliosi...	OMIM:609541
Trichothiodystrophy 1, Photosensitive	Telangiectasia, Decreased circulating IgG level, Flexion contracture	OMIM:601675
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Elevated circulating ...	OMIM:301110
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperglyc...	ORPHA:79474
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Abnormal lymph node morphology, Lymphopenia, Capillary f...	ORPHA:99889
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy...	OMIM:615355
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Lymphopenia, Lumbar hyperlordosis, T lymphocytopenia, Kyphoscoliosis, Raynaud phen...	OMIM:607944
Cushing Disease	Depression, Lymphopenia, Capillary fragility, Leukocytosis, Adrenal hyperplasia, Emotional labili...	ORPHA:96253
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Panhypogammaglobulinemia, Mu...	ORPHA:33364
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Hypertrophic cardiomyopathy, Pancytopenia, Ragged-red muscle fibers, Decreased l...	OMIM:607426
Loeys-Dietz Syndrome 1	Descending thoracic aorta aneurysm, Bifid uvula, Hypoplasia of the musculature, Pulmonary artery ...	OMIM:609192
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Decreased body weight, Tachycardia, Hyperkalemia, Shock, Elevated circulating ...	ORPHA:340
Alport Syndrome	Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm, Dysphagia, Hypertension	ORPHA:63
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Hyperinsulinemia, Syncope, O...	ORPHA:230
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic ...	ORPHA:280365
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Cryp...	ORPHA:564
Schinzel-Giedion Syndrome	Annular pancreas, Anteriorly placed anus, Abnormal heart morphology, Failure to thrive in infancy...	ORPHA:798
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Hypoglycemia, Hypertrophic cardiomyopathy, Decreased liver function	OMIM:618835
Leukocyte Adhesion Deficiency Type Ii	Ataxia, Failure to thrive, Microcytic anemia, Leukocytosis, Protruding tongue, Recurrent gastroen...	ORPHA:99843
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Anemia, Skeletal...	ORPHA:436271
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Pancreatic fibrosis...	ORPHA:64744
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ...	ORPHA:1930
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Biconcave flattened vertebrae, Mitral valve prolapse	OMIM:166200
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Pulmonary artery stenosis, Eos...	OMIM:617237
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal amyotrophy, Difficulty walking, Distal lower limb amyotrophy, Multiple joint contractures,...	ORPHA:320406
Gm1 Gangliosidosis	Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Congestive heart failure, Hep...	ORPHA:354
Aicardi-Goutieres Syndrome 1	Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly...	OMIM:225750
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Cryptorchidism, Emotional lability, Ventricular septal defect, Bicuspid ao...	ORPHA:353281
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Fasting hyperins...	ORPHA:71212
Epidermal Nevus Syndrome	Aortic aneurysm, Rhabdomyosarcoma, Thoracolumbar scoliosis, Weakness of long finger extensor muscles	ORPHA:35125
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Decreased liver function, Hepatic steatosis, Myopathy, Hepatomegaly	OMIM:614922
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Cryptorchi...	OMIM:620025
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of facial musculature...	OMIM:220110
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Increased circulating prolactin concentration, Hyperglycemia, Emotional lability, Polyphagia, Cel...	ORPHA:293987
Developmental And Epileptic Encephalopathy 100	Thoracolumbar kyphosis, Gastroesophageal reflux, Elbow flexion contracture, Gait ataxia, Protrudi...	OMIM:619777
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete...	OMIM:615812
Campomelia, Cumming Type	Abnormally ossified vertebrae, Abnormal intestine morphology, Abnormality of the pancreas, Hepato...	ORPHA:1318
Leukodystrophy, Hypomyelinating, 13	Ataxia, Failure to thrive, Irritability, Joint contracture, Exaggerated startle response	OMIM:616881
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Loeys-Dietz Syndrome	Arterial dissection, Bifid uvula, Aortic dissection, Camptodactyly of finger, Arterial tortuosity...	ORPHA:60030
Plague	Hypotension, Inflammation of the large intestine, Lymphadenitis, Depression, Enlarged mesenteric ...	ORPHA:707
Ectopia Lentis 1, Isolated, Autosomal Dominant	High palate, Scoliosis, Aortic root aneurysm, Mitral valve prolapse	OMIM:129600
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H...	ORPHA:5
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia, Aggressive behavior, Impulsivity	OMIM:261990
Laryngotracheoesophageal Cleft	Cyanosis, Choking episodes, Aspiration, Impaired oropharyngeal swallow response	ORPHA:2004
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal heart mo...	ORPHA:464321
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Exaggerated startle response...	OMIM:618056
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr...	OMIM:618733
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ...	OMIM:167800
Psoriasis 14, Pustular	Furrowed tongue, Leukocytosis, Geographic tongue, Neutrophilia, Elevated circulating C-reactive p...	OMIM:614204
Polyarteritis Nodosa	Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis	ORPHA:767
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Gastroesophageal reflux, Aortic root aneurysm, Congestive heart fa...	ORPHA:444077
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abno...	ORPHA:88618
Hyperekplexia 3	Hiatus hernia, Syncope, Gastroesophageal reflux, Exaggerated startle response	OMIM:614618
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Tay-Sachs Disease	Aspiration, Exaggerated startle response, Cherry red spot of the macula	OMIM:272800
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia, Difficulty walking, Gait ataxia, Ragged-red muscle fibers, Hyperprolinemia, Hyperal...	OMIM:620451
Charge Syndrome	Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:214800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Inability to walk, Irritability, Joint contracture, Exaggerated startle response	OMIM:617864
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities	OMIM:620326
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Increased hepatic echogenicity, Increased circulating IgE level, Eosinophilia,...	OMIM:147060
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula, Exaggerate...	ORPHA:309246
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Castleman Disease	Restrictive cardiomyopathy, Anemia, Thrombocytopenia, Increased circulating interleukin 6 concent...	ORPHA:160
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Meester-Loeys Syndrome	Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of th...	OMIM:300989
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Type 2 muscle f...	OMIM:615471
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ...	ORPHA:402075
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Pulmonic stenosis	OMIM:613224
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Aortic root aneurysm, Mitral valve prolapse, Scapular winging, High palate, ...	OMIM:616914
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Anteriorly placed anus, Cryptorchidism, Kyphoscoliosis, Telangiectasia, High pa...	OMIM:268400
Proteus Syndrome	Scoliosis, Pulmonary embolism, Thymus hyperplasia, Kyphosis, Abnormal form of the vertebral bodie...	ORPHA:744
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Myopathy, Rhabdomyolysis, Hepatic calc...	ORPHA:157
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Glycosuria, Matur...	OMIM:137920
Acute Radiation Syndrome	Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Depression, Gastroesophageal reflux, Exaggerated startle response	OMIM:620114
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Limb hypertonia, Thrombocytopenia, Neonatal hypoglycemia, Generalized amyotrophy	ORPHA:572798
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Pulmonary insufficiency, Bile duct proliferation, Pancreatic fibrosis, Jaundice...	OMIM:208500
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Gastroesophageal reflux, Pseudobulbar paralysis, Facial diplegia, As...	ORPHA:98889
Ehlers-Danlos Syndrome, Classic Type, 1	Bowel diverticulosis, Aortic root aneurysm, Mitral valve prolapse	OMIM:130000
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A...	OMIM:223370
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	OMIM:616896
Boudin-Mortier Syndrome	Difficulty walking, Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Asparagine Synthetase Deficiency	Gastroesophageal reflux, Hypoasparaginemia, Failure to thrive, Tremor, Irritability, Limb hyperto...	OMIM:615574
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Failure to thrive, Dystonia, Limb hypertonia, Impaired orophary...	ORPHA:521426
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegal...	OMIM:607014
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of exocrine panc...	ORPHA:93111
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Torsade de pointes, Hypert...	OMIM:616878
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Restrictive Dermopathy	Microcolon, Camptodactyly of finger, Multiple joint contractures, Submucous cleft hard palate, Ap...	ORPHA:1662
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Contractures of the large joints, Hypomimic face, High palate, Dysphagia, Kyph...	OMIM:617527
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Supravalvular ao...	OMIM:219100
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Abnormality of the liver, Lymphopenia, Myosi...	ORPHA:228119
Adnp Syndrome	Abnormal temper tantrums, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Cryptorchidism, Pol...	ORPHA:404448
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:145420
Pneumocystosis	Abnormal neutrophil count, Weight loss, Hypoxemia	ORPHA:723
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Patent foramen ovale, K...	OMIM:617402
Orofaciodigital Syndrome I	Hepatic fibrosis, Abnormal heart morphology, Ankyloglossia, Hamartoma of tongue, Hepatic cysts, O...	OMIM:311200
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormality of the s...	ORPHA:648
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr...	OMIM:605275
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Hepatomegaly, Mac...	OMIM:253220
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f...	OMIM:615935
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,...	ORPHA:293173
Hurler Syndrome	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto...	ORPHA:93473
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia	OMIM:620443
Charge Syndrome	Interrupted aortic arch, Gastroesophageal reflux, Tetralogy of Fallot, Aortic arch aneurysm, Cryp...	ORPHA:138
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left vent...	OMIM:620646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, High palate, Facial hypotonia, Dystonia, Exaggerated startle response	ORPHA:438216
Gm2-Gangliosidosis, Ab Variant	Dystonia, Aspiration, Exaggerated startle response	OMIM:272750
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Gene...	OMIM:608594
Hec Syndrome	Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent...	ORPHA:17
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Cardiomyopathy, Leukocytosis, Splenomegaly, Hepatomegaly	ORPHA:289157
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy...	OMIM:182250
Yunis-Varon Syndrome	High, narrow palate, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism, ...	ORPHA:3472
Hyperekplexia 1	Aspiration, Exaggerated startle response	OMIM:149400
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal mesentery morphology, Myopathy, Anemia, Dia...	ORPHA:3463
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Failure to thrive, Exaggerated startle response	OMIM:618201
Mucopolysaccharidosis, Type Vi	Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Splenomegaly, Mitral regurgitation, M...	OMIM:253200
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ...	OMIM:260370
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Reduced C-pepti...	ORPHA:556955
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Au-Kline Syndrome	Bifid uvula, Gastroesophageal reflux, Aortic root aneurysm, Failure to thrive, Supernumerary nipp...	OMIM:616580
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Hip contracture, Dysphagia, Exaggerated startle response, Flexion cont...	OMIM:617301
Leigh Syndrome	Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Congestive heart failure, Hypertrophic ca...	ORPHA:506
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature	OMIM:201470
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Polyphagi...	OMIM:607872
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Agel Amyloidosis	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal spleen...	ORPHA:85448
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr...	OMIM:276700
Amyloidosis, Finnish Type	Cardiac amyloidosis, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy	OMIM:105120
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir...	OMIM:269700
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Cardiomyopathy, Lower limb muscle weakness, Dilatation o...	ORPHA:363623
Friedreich Ataxia	Cardiomyopathy, Diabetes mellitus, Hand muscle atrophy	ORPHA:95
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Aortic root aneurysm, Kyphoscoliosis, Decreased body weight, Joint contracture, Cl...	OMIM:615349
Hyperekplexia 2	Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response	OMIM:614619
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Type II diabetes mellitus	ORPHA:99725
X Small Rings	Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect	ORPHA:96201
Classical Ehlers-Danlos Syndrome	Arterial dissection, Gastroesophageal reflux, Aortic root aneurysm, Dilatation of the cerebral ar...	ORPHA:287
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts, Hypertension, Neoplasm of t...	OMIM:193300
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart...	ORPHA:579
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic cardiomyopathy, H...	OMIM:252010
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:618329
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defe...	OMIM:616564
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic regurgitation, Cardiomy...	OMIM:252600
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Diabetes mellitus, Congestive heart failure	OMIM:229300
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glycosuria, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, Glucose intolerance, ...	OMIM:616539
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Phace Syndrome	Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo...	ORPHA:42775
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular...	OMIM:609942
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ...	ORPHA:758
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:217980
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Vitreous hemorrhage,...	ORPHA:91500
Isolated Complex I Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Diabetes mellitus, Abnormal mitochondria...	ORPHA:2609
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Neutropenia	ORPHA:79430
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Scoliosis, Cryptorchidism, Ventricular septal defect, Motor stereotypy, Attention deficit hyperac...	OMIM:619522
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Hermansky-Pudlak Syndrome 1	Hematochezia, Epistaxis, Cardiomyopathy	OMIM:203300
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, C...	ORPHA:255210
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Hepatomegaly, Ane...	ORPHA:1328
Primary Hyperoxaluria	Elevated circulating hepatic transaminase concentration, Arterial occlusion, Cardiomyopathy, Inte...	ORPHA:416
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Abnormal heart morphology, Transient ischemic attack, Secretory ...	ORPHA:500150
Toriello-Carey Syndrome	Cardiomyopathy, Tetralogy of Fallot, Abnormal cardiac septum morphology, Patent ductus arteriosus...	ORPHA:3338
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Polysplenia, Cardiomyopathy, Diastasis recti, Splenomega...	OMIM:312870
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sk...	ORPHA:110
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Hypertrophic cardiomyopa...	ORPHA:508
Friedreich Ataxia 2	Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro...	OMIM:601992
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonary valve m...	ORPHA:261537
Sarcoidosis	Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:797
Mowat-Wilson Syndrome	Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Bicuspid aortic valve, Abn...	ORPHA:2152
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Exaggerated startle response, Irritability	OMIM:618367
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonar...	ORPHA:261552
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial ...	OMIM:163950
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:79318
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Atrial septal defect, Patent ductus arteriosus, Cardiomyopathy	ORPHA:480880
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a...	OMIM:216340

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 Fnip1

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 Fnip1.

No publications found that use IMPC mice or data for Fnip1.

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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
Fnip1^{tm50343(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fnip1^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fnip1 MGI:2444668

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Fnip1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data