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Gene: Pdcd1 MGI:104879

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

programmed cell death 1

Synonyms:

Pdc1, PD-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Pdcd1 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 Pdcd1 (2 diseases)
Human diseases predicted to be associated with Pdcd1 (1433 diseases)

The table below shows human diseases associated to Pdcd1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Systemic Lupus Erythematosus		Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ...	ORPHA:536
Multiple Sclerosis, Susceptibility To		Urinary hesitancy, Urinary incontinence	OMIM:126200

The table below shows human diseases predicted to be associated to Pdcd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I...	OMIM:605258
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Glycoprotein Storage Disease	Gout	OMIM:232900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe...	OMIM:618261
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Ethanolaminosis	Cardiomegaly	OMIM:227150
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 18	Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation	OMIM:615615
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Immunodeficiency 102	Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,...	OMIM:301082
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Osteochondrosis Of The Tarsal Bone	Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Bronchiolitis obliterans, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr...	ORPHA:397596
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Tetralogy Of Fallot	Tetralogy of Fallot, Proptosis	OMIM:187500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci...	OMIM:619510
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun...	OMIM:240500
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells...	ORPHA:276
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K...	ORPHA:2619
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Joint laxity, Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D...	ORPHA:169160
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis, Glomerulopathy	ORPHA:36237
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Immunodeficiency 61	Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased...	OMIM:300310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Increased circulating IgM level, Arthritis	ORPHA:37748
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma...	OMIM:613101
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity	OMIM:616414
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia...	OMIM:615934
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os...	ORPHA:564003
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Interstitial Lung Disease 2	Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Elevated bronc...	OMIM:178500
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn...	ORPHA:139507
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137100
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma...	OMIM:226990
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Tetralogy Of Fallot	Tetralogy of Fallot, Proptosis	ORPHA:3303
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ...	OMIM:618986
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased...	ORPHA:83313
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness	OMIM:604864
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Tempi Syndrome	Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Peripheral Dysostosis	Osteoarthritis, Joint stiffness	ORPHA:1795
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Immunodeficiency 35	Recurrent respiratory infections, Increased circulating IgE level	OMIM:611521
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomatitis	ORPHA:343
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Recur...	ORPHA:436159
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal cardiac septum morphology, Proptosis	ORPHA:2370
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Jaundice, Hepatitis, Biliary cirrhosis, Gas...	ORPHA:186
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Immunodeficiency 22	Abscess, Anemia, Decreased circulating total IgM, Ascites, Decreased circulating IgE, Decreased p...	OMIM:615758
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu...	OMIM:619433
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat...	OMIM:615122
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Acquired Partial Lipodystrophy	Hepatic steatosis, Decreased circulating complement C3 concentration, Lymphocytosis	ORPHA:79087
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ...	ORPHA:33355
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Deeply set eye, Pulmonary arterial hyp...	OMIM:619064
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Cardiomegaly, Diffuse alveolar hemorrhage, Antinuclear ...	ORPHA:99931
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec...	OMIM:601492
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea...	OMIM:242860
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Abnormality of the kidney, Arthritis, Malar rash, Abnormal renal physiology	OMIM:609939
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Recurrent skin infections, Decreased circulating Ig...	OMIM:617744
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir...	OMIM:618282
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia...	OMIM:102700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,...	OMIM:604416
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Autoinflammatory-Pancytopenia Syndrome	Arthropathy, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chil...	OMIM:619858
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,...	ORPHA:93308
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Gout	ORPHA:510
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,...	OMIM:600969
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Paget Disease Of Bone 6	Nephrocalcinosis, Osteoarthritis, Recurrent fractures	OMIM:616833
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel...	ORPHA:90362
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm...	ORPHA:562639
Zika Virus Disease	Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, I...	ORPHA:448237
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Beukes Hip Dysplasia	Osteoarthritis, Shallow acetabular fossae	OMIM:142669
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat...	OMIM:613313
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco...	OMIM:608184
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Eosinophilopenia	Decreased eosinophil count, Autoimmunity	OMIM:131430
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility	ORPHA:2582
Glycogen Storage Disease Iii	Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy, Deeply set ...	OMIM:232400
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Non-Syndromic Bicoronal Craniosynostosis	Proptosis, Hypertelorism	ORPHA:35099
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Recurrent viral u...	OMIM:615577
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep...	ORPHA:411536
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Frontoocular Syndrome	Atrial septal defect, Proptosis, Pulmonic stenosis, Hypotelorism	OMIM:605321
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo...	ORPHA:69126
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Increase...	ORPHA:2137
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Hypospadias, Glomerulonephritis, Proteinuria, Hip dislocation, Nephrotic syndrome, ...	OMIM:619428
Developmental And Epileptic Encephalopathy 75	Hypertelorism, Cardiomyopathy, Proptosis, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Hepatic st...	OMIM:201475
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Cardiomyopathy, Hypertelorism, Hepatomegaly	OMIM:608540
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Nephropathy	OMIM:617056
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly...	OMIM:235200
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Vertical Talus, Congenital	Arthritis	OMIM:192950
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess	OMIM:147060
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased...	OMIM:300755
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Autoinflammation, Immune Dysregulation, And Eosinophilia	Membranous nephropathy, Nephrotic syndrome, Atopic dermatitis, Colonic eosinophilia	OMIM:618999
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Hypertelorism, Proptosis, Abnormal heart morphology	ORPHA:352490
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Hypertelorism, Congestive heart failure, Myocardial fibrosis, Pericar...	OMIM:253250
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Ascites	OMIM:269920
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic...	OMIM:619424
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Hypertelorism, Atrial septal de...	OMIM:618652
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Cardiomyopathy, Hepatic steatosis, Hepatomegaly	OMIM:610717
Hereditary Xanthinuria	Arthropathy, Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinu...	ORPHA:3467
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis	ORPHA:100093
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly	OMIM:607624
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia	OMIM:616069
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis	ORPHA:375
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Autoimmunity, Portal hypertension, Cholangitis, Hypersplenism, Anti-thyroi...	ORPHA:228426
Juvenile Nasopharyngeal Angiofibroma	Proptosis, Epistaxis	ORPHA:289596
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Pseudoachondroplasia	Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss...	ORPHA:750
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue	ORPHA:2762
Melorheostosis	Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness	ORPHA:2485
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ...	ORPHA:2298
Cherubism	Proptosis	ORPHA:184
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st...	OMIM:618234
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati...	OMIM:300972
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Autoimmunity, Congestive heart ...	ORPHA:525731
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Cutaneous anergy, Bil...	OMIM:209920
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, A...	ORPHA:411543
Dyskeratosis Congenita, Autosomal Dominant 1	Hepatic necrosis, Interstitial pneumonitis, Bone marrow hypocellularity, Cirrhosis, Pulmonary fib...	OMIM:127550
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar...	ORPHA:85408
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Abnormality of t...	ORPHA:1304
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Multiple Synostoses Syndrome 3	Proptosis	OMIM:612961
Hyperuricemia, Hprt-Related	Renal insufficiency, Podagra, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Lassa Fever	Increased circulating IgM level, Jaundice, Conjunctivitis	ORPHA:99824
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans	OMIM:165800
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypertelorism, Splen...	OMIM:170100
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ...	ORPHA:166002
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho...	OMIM:617591
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Patent duc...	OMIM:617303
Microcephaly 5, Primary, Autosomal Recessive	Proptosis	OMIM:608716
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum	ORPHA:1822
Kleeblattschaedel	Proptosis	OMIM:148800
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites	ORPHA:858
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmunity, Hashimoto thyroiditis, Autoimmune thr...	ORPHA:331235
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Heart block, Splenomegaly, Di...	ORPHA:398124
Filippi Syndrome	Proptosis, Ventricular septal defect	OMIM:272440
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato...	ORPHA:369
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic...	OMIM:619644
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami...	OMIM:618805
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Anti-thyroid peroxidase antibody positivity, Proptosis, Anti-thyroglobulin antibody positivity, A...	OMIM:274300
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Proptosis	OMIM:618492
Hemochromatosis, Type 4	Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis	OMIM:606069
Tyshchenko Syndrome	Atrial septal defect, Proptosis, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port...	ORPHA:171
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, He...	OMIM:618278
Stickler Syndrome Type 1	Proptosis, Mitral valve prolapse	ORPHA:90653
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Epiphyseal Dysplasia, Multiple, 1	Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste...	OMIM:132400
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Periventricular Nodular Heterotopia 7	Deeply set eye, Proptosis, Ventricular septal defect, Hypertelorism	OMIM:617201
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Arthritis, Urinary incontinence	ORPHA:320365
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis	OMIM:231680
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash	OMIM:620321
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum	ORPHA:85198
Pontocerebellar Hypoplasia Type 10	Proptosis	ORPHA:411493
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,...	ORPHA:79301
Gillessen-Kaesbach-Nishimura Syndrome	Hypertelorism, Periportal fibrosis, Proptosis, Abnormal heart morphology	OMIM:263210
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis	OMIM:120100
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated hepatic t...	OMIM:256040
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Graves Disease, Susceptibility To, 1	Congestive heart failure, Proptosis, Abnormal abdomen morphology	OMIM:275000
Roifman Syndrome	Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Decrease...	ORPHA:353298
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Rhizomelic Limb Shortening With Dysmorphic Features	Proptosis, Patent foramen ovale	OMIM:618821
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Desbuquois Syndrome	Proptosis, Ventricular septal defect	ORPHA:1425
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased liver function, Hepati...	ORPHA:26791
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase	ORPHA:71212
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Autoimmunity, Abnormality of tumor necrosis fa...	ORPHA:158061
Donnai-Barrow Syndrome	Proptosis, Ventricular septal defect, Hypertelorism	ORPHA:2143
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki...	ORPHA:79233
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Lethal Osteosclerotic Bone Dysplasia	Proptosis	ORPHA:1832
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Hypertelorism, Mitral regurgitation, Proptosis, ...	ORPHA:254346
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo...	ORPHA:90003
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, D...	ORPHA:49041
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Familial Cold Autoinflammatory Syndrome 2	Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis	OMIM:611762
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu...	OMIM:607078
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ...	ORPHA:229717
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Ataxia-Telangiectasia	Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level	ORPHA:100
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ...	ORPHA:400
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG...	ORPHA:319251
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Hypertelorism, Bicuspid pu...	ORPHA:3427
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Proptosis	OMIM:616171
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Elevated circulating ala...	OMIM:615381
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis	OMIM:618618
Nail-Patella Syndrome	Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,...	ORPHA:2614
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P...	ORPHA:228123
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Ascites	OMIM:256550
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function	OMIM:246900
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo...	ORPHA:169105
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Arthritis, Kerato...	OMIM:617321
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa...	ORPHA:540
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Joint stiffness	ORPHA:1345
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Autoimmune antibody positivity...	ORPHA:3386
Hypochondroplasia	Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum	ORPHA:429
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth...	OMIM:208230
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Arrhythmia, ...	ORPHA:42
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthritis, Painless f...	OMIM:608654
Ataxia-Telangiectasia	Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ...	OMIM:208900
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Autoimmunity, Splenomegaly, Juvenile rheumatoid arthritis	ORPHA:85414
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi...	ORPHA:85410
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Nephrotic syndrome, Conjunc...	ORPHA:575
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia	OMIM:619750
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Myocarditis, Sple...	ORPHA:3452
Hypophosphatasia, Childhood	Proptosis	OMIM:241510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart...	ORPHA:99642
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c...	ORPHA:79330
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Ogden Syndrome	Cardiogenic shock, Arrhythmia, Proptosis, Ventricular septal defect	ORPHA:276432
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect, Proptosis, Hypertelorism	OMIM:618354
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent urinary tract infections, Abnormal joint morphol...	ORPHA:47612
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Ventricular...	OMIM:212138
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276556
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Netherton Syndrome	Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level	OMIM:256500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Enthesitis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth...	ORPHA:85438
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Autoimmunity, Portal hypertension, Hypertelorism, Hypersplenism, Splenomegaly, Hepa...	OMIM:613385
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Abnormality of the ki...	ORPHA:90291
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276575
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, He...	OMIM:602782
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Ankle swelling, Abnormality of the kidney, Orchitis, Lymphadenit...	ORPHA:2035
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Proptosis	OMIM:166300
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Proptosis	ORPHA:85172
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Pfapa Syndrome	Arthritis, Infectious encephalitis	ORPHA:42642
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Alkaptonuria	Arthropathy, Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoul...	OMIM:203500
Marbach-Rustad Progeroid Syndrome	Ventricular septal hypertrophy, Right bundle branch block, Proptosis, Shallow orbits, Pulmonary i...	OMIM:619322
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Intellectual Developmental Disorder, Autosomal Dominant 26	Proptosis, Hypertelorism	OMIM:615834
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatitis	ORPHA:449427
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Immunodeficiency 58	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti...	OMIM:618131
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ...	OMIM:615415
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ...	ORPHA:93351
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardi...	ORPHA:156
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, El...	ORPHA:308552
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac...	ORPHA:251004
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Patellar aplasia, Antecubital pterygium, Pa...	OMIM:161200
Crouzon Syndrome With Acanthosis Nigricans	Proptosis, Hypertelorism	OMIM:612247
Thymoma	Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Co...	ORPHA:465508
Holoprosencephaly 11	Proptosis, Polysplenia, Hypotelorism	OMIM:614226
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v...	OMIM:617713
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd...	ORPHA:93311
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat...	ORPHA:367
20Q13.33 Microdeletion Syndrome	Hypertelorism, Abnormal cardiac ventricle morphology, Hematochezia, Proptosis, Atrial septal defect	ORPHA:261311
Subcorneal Pustular Dermatosis	Pustule, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	ORPHA:1830
Majeed Syndrome	Glomerulopathy, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteo...	ORPHA:77297
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:614582
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Glomerulopathy...	ORPHA:727
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276580
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal...	ORPHA:90308
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Autoimmunity	ORPHA:98827
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Antiphospholipid antibody positivity, ...	ORPHA:781
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Thanatophoric Dysplasia	Atrial septal defect, Proptosis	ORPHA:2655
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level...	ORPHA:1572
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes...	OMIM:226300
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valv...	ORPHA:1194
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Eosinophilic Fasciitis	Arthritis, Fasciitis, Myositis	ORPHA:3165
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Hypertelorism, Splenomegaly, Pancreatic lymphangiectasis...	OMIM:235255
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100080
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ...	ORPHA:567546
Aminopterin/Methotrexate Embryofetopathy	Ventricular septal defect, Hypertelorism, Situs inversus totalis, Proptosis, Tetralogy of Fallot	ORPHA:1908
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Hypertelorism, Splenomegaly, Abnor...	OMIM:222470
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Classic Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Hepatomegaly	ORPHA:391
Thanatophoric Dysplasia Type 2	Atrial septal defect, Proptosis	ORPHA:93274
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Autosomal Recessive Distal Osteolysis Syndrome	Proptosis	ORPHA:2776
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Uve...	ORPHA:36412
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Cardiomyopath...	ORPHA:2394
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Hypotelorism	OMIM:619053
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ...	OMIM:610377
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Cryoglobulinemic Vasculitis	Viral hepatitis, Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria, Arthritis, Keratoco...	ORPHA:91138
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Increased circulati...	ORPHA:1163
Wild Type Abeta2M Amyloidosis	Arthropathy, Arthritis	ORPHA:85446
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Spondyloepimetaphyseal Dysplasia, Irapa Type	Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum	OMIM:271650
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Frias Syndrome	Proptosis, Hypertelorism	OMIM:609640
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Arrhythmia,...	ORPHA:228305
Pontocerebellar Hypoplasia, Type 3	Proptosis	OMIM:608027
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor...	ORPHA:297
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Proptosis, Hypertelorism	OMIM:618577
Cinca Syndrome	Patellar overgrowth, Arthritis, Skin rash, Uveitis	OMIM:607115
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis	OMIM:603903
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Ulnar Hemimelia	Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec...	ORPHA:93320
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Patent ductus arteriosus, Hepatosplenomegaly, Increased circula...	ORPHA:505248
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge...	ORPHA:166011
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Proptosis, Ventricular septal defect	OMIM:617895
Acrocardiofacial Syndrome	Ventricular septal defect, Truncus arteriosus, Hypertelorism, Proptosis, Atrial septal defect, Mi...	ORPHA:2008
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Decreased c...	ORPHA:634
Graft Versus Host Disease	Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula...	ORPHA:39812
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Hyperthyroidism, Nonautoimmune	Tachycardia, Anti-thyroid peroxidase antibody positivity, Proptosis, Anti-thyroglobulin antibody ...	OMIM:609152
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv...	OMIM:142680
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Aa Amyloidosis	Hepatomegaly, Cholestasis, Abnormal heart morphology, Hypotension, Enlarged kidney	ORPHA:85445
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ...	ORPHA:536
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100082
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Congenital Disorder Of Glycosylation, Type Ig	Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract ...	OMIM:607143
Riddle Syndrome	Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Decreased...	ORPHA:420741
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Hypertelorism, Congestive heart failure, Splenomeg...	OMIM:230500
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness...	ORPHA:85436
Roifman-Chitayat Syndrome	Osteopenia, Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo...	OMIM:259100
Chronic Thromboembolic Pulmonary Hypertension	Antiphospholipid antibody positivity, Cardiac shunt, Autoimmunity, Right ventricular failure, Pul...	ORPHA:70591
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas...	ORPHA:33226
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin...	OMIM:606056
Pediatric Systemic Lupus Erythematosus	Dark urine, Myositis, Renal insufficiency, Skin rash, Proteinuria, Discoid lupus rash, Hematuria,...	ORPHA:93552
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Chylous ascites, Decreased circulating antibody level, Decrease...	ORPHA:90363
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis, P...	ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis	OMIM:619423
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly	OMIM:609981
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Abnormal renal morpholog...	ORPHA:449280
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary t...	ORPHA:1414
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly...	OMIM:606003
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist	ORPHA:1657
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Proptosis	OMIM:617481
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Synostosis of joints	ORPHA:61
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypertelorism, Cardiomegaly, Hypertrophic cardiomyopathy, Ascites	OMIM:616897
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Wyburn-Mason Syndrome	Subarachnoid hemorrhage, Proptosis, Epistaxis, Cerebral hemorrhage	ORPHA:53719
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy	ORPHA:848
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Alg9-Cdg	Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Hepatic cysts, Hypertelorism, P...	ORPHA:79328
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly	OMIM:619259
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis	OMIM:614204
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatos...	OMIM:603553
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Melnick-Needles Syndrome	Abnormal cardiac septum morphology, Proptosis, Hypertelorism	ORPHA:2484
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli...	ORPHA:125
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Diffuse alveolar hemorrhage, Erythema nodosum, Myocarditis, Orc...	ORPHA:99827
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level	OMIM:617425
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Proptosis, Hypertelorism	OMIM:618961
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Proptosis...	OMIM:614008
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Impaired T cell function, Splenomegaly, Patent ductu...	OMIM:614576
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi...	OMIM:307200
Teebi Hypertelorism Syndrome 2	Proptosis, Hypertelorism	OMIM:619736
Spinocerebellar Ataxia Type 3	Proptosis	ORPHA:98757
Shashi-Pena Syndrome	Atrial septal defect, Proptosis, Hypertelorism	OMIM:617190
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Glomerulopathy, Renal insufficie...	ORPHA:183
Cutis Laxa, Autosomal Recessive, Type Iie	Proptosis	OMIM:619451
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Proptosis, Hypertelorism	OMIM:602482
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic...	ORPHA:2848
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Lowry-Maclean Syndrome	Abnormality of the abdominal organs, Atrioventricular canal defect, Proptosis	ORPHA:2409
Muenke Syndrome	Proptosis, Hypertelorism	OMIM:602849
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat...	ORPHA:508533
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, Lymphocytic intersti...	ORPHA:289390
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Deeply set eye, Proptosis	OMIM:618707
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Proptosis, Hypertelorism	ORPHA:93262
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Lysinuric Protein Intolerance	Osteopenia, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Osteoporosis, Tubulointer...	ORPHA:470
Localized Scleroderma	Autoimmunity, Raynaud phenomenon, Vasculitis, Deeply set eye, Proptosis, Arrhythmia, Hashimoto th...	ORPHA:90289
Vascular Malformation, Primary Intraosseous	Proptosis	OMIM:606893
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis	ORPHA:157965
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Vitamin K Antagonist Embryofetopathy	Proptosis, Hypertelorism	ORPHA:1914
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Hepatic cysts	OMIM:613095
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Oliguria, Acute tubul...	ORPHA:340
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertelorism, Proptosis, Hepatic hemangioma, Shallo...	ORPHA:73230
Developmental And Epileptic Encephalopathy 48	Proptosis	OMIM:617276
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Proptosis, Hepatoblastoma, En...	OMIM:130650
Jackson-Weiss Syndrome	Proptosis, Hypertelorism	ORPHA:1540
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis, Decreased level of D-mannose in...	OMIM:109650
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna...	ORPHA:728
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Autoimmunity, Abnormal cardiovascular system physiology, Cardio...	ORPHA:79086
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp...	OMIM:301074
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Tangier Disease	Left ventricular hypertrophy, Hepatomegaly, Myocardial infarction, Splenomegaly	OMIM:205400
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level	OMIM:212750
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Proptosis, Deeply set eye, Mitral valve prolapse	OMIM:616914
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Pulmona...	OMIM:230800
Erdheim-Chester Disease	Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Proptosis, A...	ORPHA:35687
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis...	ORPHA:809
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel...	OMIM:608233
Yellow Fever	Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul...	ORPHA:99829
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Abnormal myocardi...	ORPHA:228308
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Splenomegaly, Hepatic steatosis, Decreased circulating IgA level	OMIM:613327
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Ventricular sept...	ORPHA:26793
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Laron Syndrome	Osteoarthritis, Abnormality of the elbow, Hypoplasia of penis	ORPHA:633
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:97287
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Melioidosis	Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth...	ORPHA:31202
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction...	ORPHA:268
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Crouzon Syndrome	Proptosis, Hypertelorism	ORPHA:207
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Proptosis	OMIM:618346
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis, Nephrotic syndrome	ORPHA:3099
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Chops Syndrome	Ventricular septal defect, Hypertelorism, Splenomegaly, Anomalous pulmonary venous return, Propto...	OMIM:616368
Optic Pathway Glioma	Proptosis	ORPHA:2086
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Cinca Syndrome	Splenomegaly, Hepatomegaly, Proptosis	ORPHA:1451
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Ichthyosis, Congenital, Autosomal Recessive 4B	Proptosis	OMIM:242500
Donnai-Barrow Syndrome	Proptosis, Ventricular septal defect, Hypertelorism	OMIM:222448
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati...	OMIM:208540
Chromosome 5P13 Duplication Syndrome	Hypertelorism, Proptosis, Hypotelorism	OMIM:613174
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J...	ORPHA:85443
Igg4-Related Ophthalmic Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ...	ORPHA:449563
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita...	ORPHA:64744
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Cervical subluxation	OMIM:184100
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris	ORPHA:79292
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join...	ORPHA:169802
Pseudoachondroplasia	Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car...	OMIM:177170
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Pancreatitis, Hepatomegaly	ORPHA:27
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Chondrodysplasia With Joint Dislocations, Gpapp Type	Proptosis	OMIM:614078
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Congenital Myopathy 22A, Classic	Deeply set eye, Tricuspid regurgitation, Bradycardia, Proptosis	OMIM:620351
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ...	ORPHA:158048
Moderate Hemophilia A	Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Hematuria, Joint swelling,...	ORPHA:169805
Noonan Syndrome	Hepatomegaly, Abnormal pulmonary valve morphology, Hypertelorism, Abnormality of the spleen, Prop...	ORPHA:648
Thanatophoric Dysplasia Type 1	Atrial septal defect, Proptosis	ORPHA:1860
Bohring-Opitz Syndrome	Cardiomegaly, Hypertelorism, Abnormal cardiac septum morphology, Proptosis, Bradycardia, Cholelit...	ORPHA:97297
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Hypertelorism, Mitral valve prolapse, Proptosis, Atrial sept...	OMIM:245600
Robinow Syndrome, Autosomal Recessive 2	Proptosis, Bicuspid aortic valve, Hypertelorism	OMIM:618529
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decrea...	ORPHA:83471
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener...	ORPHA:93360
Ritscher-Schinzel Syndrome 4	Deeply set eye, Proptosis, Hypertelorism, Hypotelorism	OMIM:619435
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100075
Bohring-Opitz Syndrome	Ventricular septal defect, Hypertelorism, Proptosis, Hyperechogenic pancreas, Atrial septal defect	OMIM:605039
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:77261
Dyssegmental Dysplasia, Silverman-Handmaker Type	Proptosis, Abnormal heart morphology	ORPHA:1865
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Joint stiffness, Pustule, Enthes...	ORPHA:29207
Congenital Disorder Of Glycosylation, Type Iig	Left ventricular hypertrophy, Proptosis, Hypertelorism	OMIM:611209
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Hypertelorism, Mitral valve prolapse, Mitral regurgitation, Aor...	OMIM:614185
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Prolidase Deficiency	Splenomegaly, Hepatomegaly, Proptosis, Hypertelorism	ORPHA:742
Lateral Meningocele Syndrome	Proptosis, Ventricular septal defect, Hypertelorism	ORPHA:2789
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi...	OMIM:212065
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Flexion contracture, Osteolysis, Oliguria, Arthritis	ORPHA:220393
Chitayat Syndrome	Proptosis, Hypertelorism	OMIM:617180
Loeys-Dietz Syndrome 5	Ventricular septal defect, Hypertelorism, Mitral regurgitation, Proptosis, Atrial septal defect, ...	OMIM:615582
Poems Syndrome	Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis...	ORPHA:2905
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc...	OMIM:619991
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Proptosis, Hypertelorism	ORPHA:2165
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Heart murmur, Intracranial hemorrhage, Proptosis, ...	ORPHA:163979
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Propt...	OMIM:616894
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Cholestatic liver disease	ORPHA:5
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertension, Cirrhosis, Hypertrophic cardi...	ORPHA:79083
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Generalized Pustular Psoriasis	Renal insufficiency, Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Alkaptonuria	Joint dislocation, Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density...	ORPHA:56
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Iridocyclitis, Splenomegaly, Enlarged lacrimal gl...	OMIM:181000
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Osteoporosis	ORPHA:77296
Baller-Gerold Syndrome	Hypertelorism, Abnormal cardiac septum morphology, Proptosis, Hypotelorism	ORPHA:1225
Cardiofaciocutaneous Syndrome 1	Hypertelorism, Splenomegaly, Proptosis, Pulmonic stenosis, Atrial septal defect, Hypertrophic car...	OMIM:115150
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ...	ORPHA:131
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre...	OMIM:613070
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Patent ductus arteriosus, Decreased circulating total IgM, Annular pan...	OMIM:618162
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility	OMIM:108300
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Low-output congestive heart failure, Cardiomyopathy,...	ORPHA:565612
Shprintzen-Goldberg Syndrome	Hypertelorism, Mitral valve prolapse, Mitral regurgitation, Proptosis, Abnormal aortic valve morp...	ORPHA:2462
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Renal phosphate wasting, Renal tubular dysfun...	OMIM:307800
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Bacterial endocarditis,...	ORPHA:97214
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Proptosis	ORPHA:1790
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Glycogen Storage Disease Ia	Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Enlarged ki...	OMIM:232200
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy	OMIM:252900
Glycogen Storage Disease Vii	Hematuria, Gout, Exercise-induced myoglobinuria	OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca...	OMIM:618000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Proptosis, Hypertelorism	OMIM:109120
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Hypertelorism, Cholestasis, ...	ORPHA:52
Donohue Syndrome	Proptosis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis	OMIM:246200
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o...	OMIM:251450
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,...	OMIM:619127
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Wilson Disease	Hepatitis, Joint swelling, Arthritis, Acute hepatitis, Pathologic fracture	ORPHA:905
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ...	ORPHA:79408
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope...	ORPHA:1667
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function, Hepatomegaly	OMIM:201100
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Re...	ORPHA:2968
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level	OMIM:248500
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Proptosis, Hypertelorism, Abnormality of the pancreas	ORPHA:1555
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:619573
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Proptosis, Hypertelorism	OMIM:620250
Distal Deletion 10Q	Atrial septal defect, Proptosis, Hypotelorism	ORPHA:96148
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Jackson-Weiss Syndrome	Proptosis	OMIM:123150
Glycogen Storage Disease Ib	Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammatio...	OMIM:232220
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227990
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i...	ORPHA:90068
Muenke Syndrome	Proptosis, Hypertelorism	ORPHA:53271
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Familial Mediterranean Fever	Pericarditis, Skin rash, Proteinuria, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ar...	ORPHA:342
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn...	ORPHA:228119
Microhydranencephaly	Proptosis	OMIM:605013
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Dowling-Degos Disease	Arthritis, Penile freckling, Acne inversa	ORPHA:79145
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Proptosis	ORPHA:2522
Acrofrontofacionasal Dysostosis 2	Proptosis, Hypertelorism	OMIM:239710
H Syndrome	Abnormal cardiovascular system physiology, Hepatosplenomegaly, Proptosis, Facial telangiectasia, ...	ORPHA:168569
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hypotension...	ORPHA:159
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Vici Syndrome	Decreased circulating IgG level, Left ventricular hypertrophy, Decreased circulating IgG2 level, ...	OMIM:242840
Multicentric Osteolysis, Nodulosis, And Arthropathy	Antinuclear antibody positivity, Hypertelorism, Proptosis, Mitral valve prolapse	OMIM:259600
Rheumatoid Arthritis	Joint swelling, Polyarticular arthritis, Rheumatoid arthritis, Joint stiffness	OMIM:180300
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi...	ORPHA:2796
Trisomy 12P	Proptosis, Hypertelorism	ORPHA:1699
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Hypertelorism, Splenomegaly, Hepatosplenomegaly, Hepatic failure, Asc...	OMIM:608013
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proptosis	ORPHA:2774
Xylt1-Cdg	Hepatomegaly, Proptosis	ORPHA:370930
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Orchitis, Pustule, Hem...	ORPHA:761
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Proptosis	OMIM:207410
Adiposis Dolorosa	Arthritis, Recurrent skin infections	ORPHA:36397
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Mitral regurgitation, Proptosis, Patent foramen ovale, Hypertelorism	ORPHA:457395
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227982
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Rheumatoid arthritis	ORPHA:399180
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Proteinuria, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven...	ORPHA:1855
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated card...	OMIM:615895
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Prader-Willi Syndrome Due To Translocation	Hypertelorism, Hypotelorism, Abnormal heart morphology, Deeply set eye, Proptosis, Patent foramen...	ORPHA:177907
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Myocarditis, Peritonitis, Hepa...	ORPHA:73263
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl...	OMIM:613471
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Hypertelorism, Proptosis, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Microcephaly 3, Primary, Autosomal Recessive	Proptosis	OMIM:604804
Hyperostosis Cranialis Interna	Proptosis	OMIM:144755
Hennekam-Beemer Syndrome	Arrhythmia, Proptosis, Telangiectasia of the skin, Hypotension	ORPHA:2135
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Fibrochondrogenesis 1	Proptosis, Patent foramen ovale	OMIM:228520
Familial Mediterranean Fever	Pericarditis, Orchitis, Peritonitis, Stage 5 chronic kidney disease, Arthritis, Nephrotic syndrom...	OMIM:249100
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Oculoectodermal Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Proptosis, Transient ischemic attack	OMIM:600268
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
Frank-Ter Haar Syndrome	Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Mitral valve prolapse, P...	OMIM:249420
Overlap Myositis	Arthritis, Subluxation of the small joints of the hand, Abnormality of the kidney, Rheumatoid art...	ORPHA:206572
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Shigellosis	Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Uveitis, Ulcerative c...	ORPHA:810
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Proptosis, Ventricular septal defect, Hypertelorism	ORPHA:251014
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Chronic pancreatitis, Gout, Hematuria, Focal segmental glomerul...	OMIM:232240
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pelvic mass, Jaundice, Proptosis, Ascites, Pancreatitis	ORPHA:370348
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Spondyloepimetaphyseal Dysplasia, Missouri Type	Osteoarthritis, Limited elbow extension, Genu varum	OMIM:602111
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Ascites, Proptosis, Hepatic failure	OMIM:259720
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypertelorism, Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Robinow Syndrome	Ventricular septal defect, Hypertelorism, Abnormal heart morphology, Proptosis, Pulmonic stenosis...	ORPHA:97360
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Marshall-Smith Syndrome	Proptosis, Hypertelorism	ORPHA:561
Cole-Carpenter Syndrome 2	Proptosis, Hypertelorism	OMIM:616294
Shprintzen-Goldberg Craniosynostosis Syndrome	Shallow orbits, Hypertelorism, Proptosis, Mitral valve prolapse	OMIM:182212
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension, Proptosis, Shallow orbits	OMIM:620029
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita...	ORPHA:1427
Spinocerebellar Ataxia-Dysmorphism Syndrome	Proptosis	ORPHA:1185
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Hypertension, Proptosis, Shallow or...	OMIM:602535
Acrocraniofacial Dysostosis	Proptosis, Hypertelorism	ORPHA:949
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Dubowitz Syndrome	Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula...	OMIM:223370
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hepatic steatosis, Hepatomegaly	OMIM:615238
Cenani-Lenz Syndrome	Proptosis, Hypertelorism	ORPHA:3258
Restrictive Dermopathy 2	Proptosis	OMIM:619793
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Crouzon Syndrome	Hypertelorism, Proptosis, Shallow orbits	OMIM:123500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Obesity Due To Congenital Leptin Deficiency	Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ...	ORPHA:66628
Okamoto Syndrome	Ventricular septal defect, Hypertelorism, Splenomegaly, Abnormal left ventricle morphology, Primu...	ORPHA:2729
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti...	OMIM:615846
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis	OMIM:601979
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm...	ORPHA:324625
Apert Syndrome	Overriding aorta, Ventricular septal defect, Hypertelorism, Proptosis, Shallow orbits	OMIM:101200
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Proptosis	ORPHA:440354
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob...	ORPHA:89936
Farber Disease	Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of the elbow, Arthritis, ...	ORPHA:333
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Melnick-Needles Syndrome	Hypertelorism, Mitral valve prolapse, Proptosis, Tricuspid valve prolapse, Pulmonary arterial hyp...	OMIM:309350
Apert Syndrome	Hypertension, Proptosis, Hypertelorism	ORPHA:87
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Ascites, Proptosis, Deeply set eye	OMIM:620369
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cho...	OMIM:607765
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent ...	ORPHA:488618
Obesity Due To Leptin Receptor Gene Deficiency	Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ...	ORPHA:179494
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve...	ORPHA:365
Machado-Joseph Disease	Proptosis	OMIM:109150
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A...	ORPHA:293978
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Hypertelorism, Proptosis, Abnorma...	ORPHA:1507
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Hypertelorism, Congestive heart failure, Spleno...	OMIM:252500
Atelosteogenesis Type I	Proptosis, Abnormal pancreatic duct morphology, Hypertelorism	ORPHA:1190
Antley-Bixler Syndrome	Proptosis, Hypertelorism	ORPHA:83
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell...	ORPHA:3132
Developmental And Epileptic Encephalopathy 80	Proptosis, Hypertelorism	OMIM:618580
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Proptosis, Hypertelorism	OMIM:614800
Multiple Pterygium-Malignant Hyperthermia Syndrome	Proptosis, Hypotelorism	ORPHA:2215
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Proptosis	ORPHA:1323
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Hypertelorism, Proptosis, Pulmonic stenosis, Atrial septal defec...	ORPHA:536471
Degcags Syndrome	Hepatomegaly, Tachycardia, Ventricular septal defect, Hypertelorism, Cholestasis, Hepatosplenomeg...	OMIM:619488
Camurati-Engelmann Disease	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Proptosis	ORPHA:1328
Distal Deletion 9P	Proptosis, Hypertelorism	ORPHA:1642
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Proptosis, Hypertelorism	OMIM:123790
Pfeiffer Syndrome Type 1	Proptosis, Hypertelorism	ORPHA:93258
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Joint stiffness, Hematuria, Arthritis	ORPHA:397
Bainbridge-Ropers Syndrome	Deeply set eye, Proptosis, Hypertelorism	OMIM:615485
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Proptosis, Pulmon...	ORPHA:444077
Pycnodysostosis	Proptosis, Hepatosplenomegaly	ORPHA:763
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an...	ORPHA:91500
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Hypertelorism, Abnormality of the gallbladder, Abnormal cardiac ...	ORPHA:280
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Patent ductus arteriosus, Abnormal lung lobation, Decreased circulating total...	ORPHA:369837
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Proptosis, Hepatoblastoma...	ORPHA:116
Fanconi Anemia	Hypertelorism, Abnormality of the liver, Abnormal cardiac septum morphology, Abnormal aortic valv...	ORPHA:84
Multiple Epiphyseal Dysplasia Type 4	Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif...	ORPHA:93307
Kniest Dysplasia	Proptosis	OMIM:156550
Familial Gestational Hyperthyroidism	Autoimmune antibody positivity, Proptosis	ORPHA:99819
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Hypertelorism, Renovascular hypertension, Hypertension, ...	ORPHA:3472
Monosomy 18Q	Bilateral cryptorchidism, Patent ductus arteriosus, Secondary growth hormone deficiency, Decrease...	ORPHA:1600
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis	ORPHA:92050
Fucosidosis	Splenomegaly, Hepatomegaly, Hypertelorism, Cardiomegaly	OMIM:230000
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Dysostosis, Stanescu Type	Proptosis, Hypertelorism	ORPHA:1798
Listeriosis	Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit...	ORPHA:533
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Hypertelorism, Hepatosplenomegaly, Mitral regurgitation, Proptosis	ORPHA:309282
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic v...	OMIM:619475
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Hepatic cysts, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Hy...	OMIM:263200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Autoimmune antibody positivity, Proptosis	ORPHA:424
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	OMIM:276700
Cole-Carpenter Syndrome 1	Proptosis, Shallow orbits	OMIM:112240
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Glomerulopathy, Renal insufficienc...	ORPHA:117
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ...	ORPHA:2136
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation, Proptosis, Atrial septal ...	OMIM:271640
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Hepatic fibr...	ORPHA:14
Metaphyseal Chondrodysplasia, Jansen Type	Proptosis, Hypertelorism	OMIM:156400
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Familial Infantile Myoclonic Epilepsy	Proptosis	ORPHA:352582
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Juvenile Xanthogranuloma	Proptosis, Hyphema	ORPHA:158000
Machado-Joseph Disease Type 1	Proptosis	ORPHA:276238
Machado-Joseph Disease Type 2	Proptosis	ORPHA:276241
Scleromyxedema	Abnormal lung morphology, Paraproteinemia, Abnormal pulmonary artery morphology	ORPHA:167635
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis media, Glomeru...	ORPHA:534
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:50918
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy...	ORPHA:567983
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed...	ORPHA:93314
Cornelia De Lange Syndrome 1	Duplication of internal organs, Proptosis, Ventricular septal defect	OMIM:122470
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia	OMIM:215150
Marshall Syndrome	Proptosis, Hypertelorism	ORPHA:560
Paternal Uniparental Disomy Of Chromosome 6	Shallow orbits, Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Proteinuria, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures...	ORPHA:79259
Premature Aging Syndrome, Penttinen Type	Shallow orbits, Hypertelorism, Proptosis, Hypotelorism	OMIM:601812
20Q11.2 Microduplication Syndrome	Proptosis	ORPHA:363659
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Catastrophic Antiphospholipid Syndrome	Myocarditis, Abnormality of the kidney, Arthritis	ORPHA:464343
Machado-Joseph Disease Type 3	Proptosis	ORPHA:276244
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypertelorism, Abnormal hea...	OMIM:612289
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Hypertelorism, Proptosis	OMIM:616145
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Idiopathic Camptocormia	Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis	ORPHA:1320
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Respiratory tract infection, Myocar...	ORPHA:544482
Fibrochondrogenesis	Proptosis, Hypertelorism	ORPHA:2021
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Myocarditis, Hepatitis, Cheilitis, Sterile pyuria, Arthriti...	ORPHA:2331
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Hypertelorism, Bicuspid pulmonary valve, Mitral valve prolapse, Proptosis,...	OMIM:609192
Wilson Disease	Hyperphosphaturia, Proteinuria, Osteomalacia, Osteoarthritis, Atypical or prolonged hepatitis, Os...	OMIM:277900
Craniotubular Dysplasia, Ikegawa Type	Proptosis, Ventricular septal defect, Hypertelorism	OMIM:619727
Saul-Wilson Syndrome	Proptosis	OMIM:618150
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Hypertelorism, Abnormality of the gallbladder, Proptosis, Atrial septa...	ORPHA:818
Pontocerebellar Hypoplasia, Type 10	Proptosis	OMIM:615803
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret...	ORPHA:90340
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Deeply set eye, Proptosis, Hypertelorism	OMIM:300966
Pfeiffer Syndrome Type 2	Proptosis, Hypertelorism	ORPHA:93259
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Deeply set eye, Proptosis, Pulmonic ste...	OMIM:616268
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis	OMIM:608612
Wiskott-Aldrich Syndrome	Glomerulopathy, Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Con...	ORPHA:906
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Mitral valve prolapse	ORPHA:536467
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Neu-Laxova Syndrome 2	Proptosis, Hypertelorism	OMIM:616038
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Uric acid nephrolithiasis	OMIM:300661
Robinow Syndrome, Autosomal Dominant 2	Proptosis, Hypertelorism	OMIM:616331
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti...	ORPHA:581
Mullegama-Klein-Martinez Syndrome	Proptosis, Hypoplastic left heart, Apical muscular ventricular septal defect	OMIM:301022
Cerebrotendinous Xanthomatosis	Cholelithiasis, Proptosis, Abnormal atrial septum morphology, Prolonged neonatal jaundice	ORPHA:909
Sclerosteosis 1	Proptosis, Hypertelorism	OMIM:269500
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Proptosis	OMIM:248370
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Osteoporosis, Recurrent otitis m...	OMIM:619525
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Proptosis	ORPHA:85184
Desbuquois Dysplasia 2	Proptosis	OMIM:615777
Pfeiffer Syndrome Type 3	Proptosis, Hypertelorism	ORPHA:93260
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Proptosis	OMIM:619234
Aapoaiv Amyloidosis	Abnormal lung morphology, Paraproteinemia	ORPHA:439232
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Hypertelorism, Renovascular hypertension, Abnormal heart morphology, ...	ORPHA:97685
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer...	ORPHA:93352
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati...	ORPHA:83617
Kniest Dysplasia	Proptosis	ORPHA:485
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Hypertelorism, Mitral valve prolapse, Deeply set eye...	OMIM:180849
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis	ORPHA:93672
Campomelic Dysplasia	Proptosis, Hypertelorism	ORPHA:140
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Cole-Carpenter Syndrome	Proptosis	ORPHA:2050
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Jaundice, Cholestasis, Decreased circulating antibody level, Hepatosplenomegaly, He...	ORPHA:247598
Pseudoaminopterin Syndrome	Asplenia, Proptosis, Patent foramen ovale, Hypertelorism	ORPHA:221120
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Hyp...	OMIM:613795
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Autoimmunity, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly...	ORPHA:51
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand	OMIM:190350
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L...	ORPHA:99826
Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Increased circulating antibody level...	ORPHA:355
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Reduced bone mineral density, Hematuria, Arthri...	ORPHA:324
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Proptosis	OMIM:615349
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Meester-Loeys Syndrome	Hypertelorism, Proptosis, Mitral valve prolapse	OMIM:300989
Schinzel-Giedion Syndrome	Hypertelorism, Abnormal heart morphology, Proptosis, Shallow orbits, Hepatoblastoma, Annular panc...	ORPHA:798
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Hypertension, Proptosis, Prolonged...	OMIM:210710
Holoprosencephaly 3	Cyclopia, Proptosis, Hypotelorism	OMIM:142945
Dysbetalipoproteinemia	Acute pancreatitis, Renal steatosis, Gout	ORPHA:412
Neu-Laxova Syndrome	Proptosis, Hypertelorism	ORPHA:2671
Craniosynostosis 4	Proptosis, Hypertelorism	OMIM:600775
Robinow Syndrome, Autosomal Recessive 1	Right ventricular outlet tract obstruction, Proptosis, Hypertelorism	OMIM:268310
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Deep...	OMIM:619534
Short Stature With Microcephaly And Distinctive Facies	Proptosis	OMIM:615789
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypo...	ORPHA:100079
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Stickler Syndrome	Hypertelorism, Arrhythmia, Proptosis, Mitral valve prolapse	ORPHA:828
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia, Proptosis, Hypertelorism	OMIM:614437
Myasthenia Gravis	Myositis, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis	ORPHA:589
Raine Syndrome	Proptosis, Hypertelorism	OMIM:259775
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, Chronic hepatitis, Art...	ORPHA:3260
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Nocturia, Gout, Tubulointerstitia...	ORPHA:358
Atelosteogenesis, Type I	Proptosis, Hypertelorism	OMIM:108720
Proboscis Lateralis	Cyclopia, Proptosis, Ventricular septal defect, Hypertelorism	ORPHA:141099
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis, Enlarged kidney	ORPHA:79128
Kosaki Overgrowth Syndrome	Proptosis	OMIM:616592
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Joint swelling, Sclerosis of skull base, Rheumatoid arthritis, Recurrent sinusitis, Re...	OMIM:607944
Viss Syndrome	Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Hypertelorism, Mitral...	OMIM:619472
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis	ORPHA:90154
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, T lymphocytopenia, Neoplasm, Microcytic anemia	ORPHA:2959
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Proptosis, Hypertelorism	ORPHA:2211
Congenital Myopathy 17	Proptosis	OMIM:618975
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypertelorism, Biliary tract abnormality, Proptosis,...	OMIM:194190
Multiple Osteochondromas	Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul...	ORPHA:321
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Mandibuloacral Dysplasia With Type A Lipodystrophy	Proptosis	ORPHA:90153
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Unilateral primary pulmonary dysgen...	OMIM:192430
Holoprosencephaly 2	Hypotelorism, Cyclopia, Proptosis, Single ventricle	OMIM:157170
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis	OMIM:161700
Neu-Laxova Syndrome 1	Ventricular septal defect, Hypertelorism, Proptosis, Transposition of the great arteries, Patent ...	OMIM:256520
Meningioma	Syncope, Proptosis, Cerebral hemorrhage	ORPHA:2495
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Proptosis, Hypotelorism	ORPHA:468631
Osteoglophonic Dysplasia	Hypertelorism, Proptosis, Shallow orbits	OMIM:166250
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
X-Linked Intellectual Disability, Snyder Type	Proptosis, Hypertelorism	ORPHA:3063
Retinoblastoma	Vitreous hemorrhage, Proptosis, Hyphema, Subretinal pigment epithelium hemorrhage	ORPHA:790
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Hypertelorism, Bicuspid pulmonary valve, Mitral valve prolapse, Proptosis,...	OMIM:610168
22Q11.2 Deletion Syndrome	Acne, Hypospadias, Seborrheic dermatitis, Vesicoureteral reflux, Renal hypoplasia, Multiple sutur...	ORPHA:567
Orotic Aciduria	Impaired T cell function	OMIM:258900
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorrhage, He...	ORPHA:509
Cherubism	Proptosis	OMIM:118400
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Toriello-Lacassie-Droste Syndrome	Proptosis	ORPHA:3339
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Parathyroid hypopl...	ORPHA:2237
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Abnormal B cell morphology, G...	OMIM:618223
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Proptosis	ORPHA:93315
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,...	ORPHA:707
Wiedemann-Rautenstrauch Syndrome	Hypertelorism, Secundum atrial septal defect, Hypotelorism, Deeply set eye, Proptosis	OMIM:264090
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P...	ORPHA:373
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Proptosis, Hypertelorism	OMIM:617011
Osteogenesis Imperfecta, Type Viii	Proptosis	OMIM:610915
14Q22Q23 Microdeletion Syndrome	Proptosis, Hypertelorism	ORPHA:264200
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Hypertelo...	ORPHA:286
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ...	ORPHA:284984
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, ...	ORPHA:391487
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Hypertelorism, Proptosis, Shallow orbits	ORPHA:457359
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Protrusio acetabuli, Fractures of the long bones, Osteoarthritis...	ORPHA:666
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastoma, T lymphocytopen...	OMIM:251260
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Proptosis	ORPHA:85199
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Proptosis, Hypertelorism	OMIM:130070
Hunter-Macdonald Syndrome	Hypospadias, Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the ha...	OMIM:611962
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Cholecystitis, Gout	ORPHA:90041
Autosomal Dominant Robinow Syndrome	Proptosis, Hypertelorism	ORPHA:3107
Blomstrand Lethal Chondrodysplasia	Proptosis	ORPHA:50945
Tetrasomy 9P	Joint dislocation, Renal dysplasia, Myositis, Pericarditis, Recurrent urinary tract infections, H...	ORPHA:3310
Keppen-Lubinsky Syndrome	Proptosis, Shallow orbits	OMIM:614098
Proteus Syndrome	Sudden cardiac death, Hypertelorism, Enlarged polycystic ovaries, Splenomegaly, Pulmonary embolis...	ORPHA:744
Robinow Syndrome, Autosomal Dominant 1	Right ventricular outlet tract obstruction, Proptosis, Hypertelorism	OMIM:180700
Roberts Syndrome	Proptosis, Hypertelorism	ORPHA:3103
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Heparan sulfate excretion in urine, Flexion contracture, Limitation of j...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Heparan sulfate excretion in urine, Flexion contracture, Limitation of j...	ORPHA:217093
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Rheumatoid arthritis	ORPHA:98808
Keppen-Lubinsky Syndrome	Proptosis, Shallow orbits	ORPHA:435628
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypertelorism, Biliary tract abnormality, Proptosis,...	OMIM:268300
Chronic Graft Versus Host Disease	Fasciitis, Phimosis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Hematuria...	ORPHA:99921
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Proptosis	OMIM:210730
Neurofibromatosis Type 1	Hypertension, Proptosis	ORPHA:636
Branchioskeletogenital Syndrome	Proptosis, Hypertelorism	ORPHA:1299
Digeorge Syndrome	Acne, Impaired T cell function, Parathyroid agenesis, Seborrheic dermatitis, Atelectasis, Patent ...	OMIM:188400
Dermatomyositis	Myocarditis, Pericarditis, Chondrocalcinosis, Arthritis	ORPHA:221
Camurati-Engelmann Disease	Proptosis	OMIM:131300
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Orofaciodigital Syndrome Type 4	Proptosis, Hypertelorism	ORPHA:2753
Yunis-Varon Syndrome	Ventricular septal defect, Hypertelorism, Heart murmur, Cardiomyopathy, Proptosis, Pulmonary arte...	OMIM:216340
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Chronic kidney disease, Painless fractures due...	ORPHA:642
Isolated Exencephaly	Proptosis	ORPHA:563612
Classical Ehlers-Danlos Syndrome	Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo...	ORPHA:287
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Vesicoureteral ref...	ORPHA:2363
Alström Syndrome	Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Glomerulo...	ORPHA:64
Progeroid Short Stature With Pigmented Nevi	Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function	OMIM:176690
Elsahy-Waters Syndrome	Proptosis, Hypertelorism	OMIM:211380
Fetal Akinesia Deformation Sequence 1	Proptosis, Hypertelorism	OMIM:208150
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita...	ORPHA:740
Acromegaly	Acne, Dysuria, Osteoarthritis, Wide penis, Long penis, Joint swelling	ORPHA:963
Marfan Syndrome	Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl...	OMIM:154700
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Proptosis	ORPHA:2636
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension, Proptosis, Hypertelorism	OMIM:201750
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Proptosis, Hypertelorism	OMIM:271665
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,...	ORPHA:580
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Recurrent urinary tract infections, Recurrent skin infections, Camptodactyly of finge...	ORPHA:3455
Aspartylglucosaminuria	Chronic otitis media, Arthritis, Aspartylglucosaminuria, Joint stiffness	ORPHA:93
Pallister-Killian Syndrome	Ventricular septal defect, Hypertelorism, Proptosis, Aortic valve stenosis, Atrial septal defect,...	OMIM:601803
Somatomammotropinoma	Joint swelling, Osteoarthritis, Dysuria	ORPHA:314769
Osteogenesis Imperfecta, Type Vii	Proptosis	OMIM:610682
Craniosynostosis And Dental Anomalies	Proptosis, Hypertelorism	OMIM:614188
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Osteoporosis, Join...	ORPHA:558
Choreoacanthocytosis	Arthritis	ORPHA:2388
Noonan Syndrome 1	Cubitus valgus, Hypospadias, Synovitis	OMIM:163950
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200

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 Pdcd1

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 Pdcd1.

No publications found that use IMPC mice or data for Pdcd1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Pdcd1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pdcd1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Pdcd1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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