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Gene: Plcg2 MGI:97616

Gene Summary

Name:

phospholipase C, gamma 2

Synonyms:

PLCgamma2, Plcg-2

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased IgM level	Plcg2^Ali14	HET	Early adult	8.87×10^-06
decreased IgG3 level	Plcg2^Ali14	HET	Early adult	3.13×10^-05
decreased bone mineral density	Plcg2^Ali14	HET	Early adult	1.06×10^-09
decreased erythrocyte cell number	Plcg2^Ali14	HET	Early adult	4.30×10^-05
decreased circulating free fatty acids level	Plcg2^Ali14	HET	Early adult	7.50×10^-07
increased IgG1 level	Plcg2^Ali14	HET	Early adult	3.25×10^-15
decreased circulating cholesterol level	Plcg2^Ali14	HET	Early adult	2.82×10^-11
decreased mature B cell number	Plcg2^Ali14	HET	Early adult	7.70×10^-08
decreased hematocrit	Plcg2^Ali14	HET	Early adult	1.04×10^-05
thrombocytosis	Plcg2^Ali14	HET	Early adult	3.12×10^-06
decreased hemoglobin content	Plcg2^Ali14	HET	Early adult	1.40×10^-06
hyperactivity	Plcg2^Ali14	HET	Early adult	8.63×10^-05
increased IgG2b level	Plcg2^Ali14	HET	Early adult	2.48×10^-06
abnormal glucose homeostasis	Plcg2^Ali14	HET	Early adult	5.94×10^-05
decreased circulating triglyceride level	Plcg2^Ali14	HET	Early adult	5.97×10^-05
increased T cell number	Plcg2^Ali14	HET	Early adult	1.35×10^-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Plcg2 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 Plcg2 (2 diseases)
Human diseases predicted to be associated with Plcg2 (1257 diseases)

The table below shows human diseases associated to Plcg2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autoinflammation, Antibody Deficiency, And Immune Dysregulation		Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Familial Cold Autoinflammatory Syndrome 3		Pruritus, Recurrent otitis media, Allergic rhinitis, Hashimoto thyroiditis	OMIM:614468

The table below shows human diseases predicted to be associated to Plcg2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit...	OMIM:607850
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Knee osteoarthritis, Limitation...	ORPHA:2619
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
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
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage 5 chronic kid...	OMIM:613496
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increa...	OMIM:209950
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent bacterial meningitis, Reduc...	OMIM:300400
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Histiocytosis, Familial Lipochrome	Polyarticular arthritis, Increased circulating antibody level, Histiocytosis	OMIM:235900
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Chilblain Lupus 2	Chilblains	OMIM:614415
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia	OMIM:300988
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating...	OMIM:619510
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ...	OMIM:613101
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased pro...	OMIM:618982
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Ascites, Chylous	Chylous ascites	OMIM:208300
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:273800
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:618204
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness	OMIM:604864
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Cernunnos-Xlf Deficiency	Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,...	ORPHA:169079
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Rec...	ORPHA:98813
Peripheral Dysostosis	Osteoarthritis, Joint stiffness	ORPHA:1795
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia, Neut...	OMIM:155100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne...	ORPHA:169160
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na...	OMIM:308240
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,...	OMIM:614201
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arth...	ORPHA:37748
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec...	OMIM:620282
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Osteochondrosis Of The Tarsal Bone	Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag...	OMIM:617443
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Beukes Hip Dysplasia	Osteoarthritis, Shallow acetabular fossae	OMIM:142669
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Epiphyseal Dysplasia, Multiple, 3	Osteoarthritis, Delayed epiphyseal ossification, Limited elbow extension, Limited knee extension,...	OMIM:600969
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Glanzmann Thrombasthenia	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla...	ORPHA:849
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Delayed epiphyseal ossification,...	ORPHA:93308
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo...	ORPHA:231
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti...	OMIM:212050
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th...	OMIM:152700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, S...	OMIM:619375
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c...	OMIM:619433
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis	ORPHA:295
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev...	ORPHA:100024
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ...	OMIM:616005
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p...	ORPHA:209004
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C...	ORPHA:2414
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr...	OMIM:601399
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti...	OMIM:616100
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ...	OMIM:615888
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue	ORPHA:2762
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
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
Activated Pi3K-Delta Syndrome	Splenomegaly, Decreased circulating antibody level, Arthritis, Increased circulating IgM level, B...	ORPHA:397596
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans	OMIM:165800
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Joint sti...	OMIM:615934
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat...	OMIM:618261
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ...	ORPHA:166002
Pseudoachondroplasia	Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye...	ORPHA:750
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l...	OMIM:618806
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Von Willebrand Disease, Type 3	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia, Joint hemorrhage	OMIM:277480
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Pityriasis Rubra Pilaris	Pruritus, Pustule, Eczema, Erythroderma	ORPHA:2897
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l...	ORPHA:1041
Immunodeficiency 19	Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp...	OMIM:615617
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ...	ORPHA:53
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613736
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis	OMIM:619462
Ovarian Hyperstimulation Syndrome	Ascites	OMIM:608115
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum	ORPHA:1822
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Type...	OMIM:212750
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Epiphyseal Dysplasia, Multiple, 1	Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Limited hip movement,...	OMIM:132400
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin...	ORPHA:411593
Immunodeficiency 97 With Autoinflammation	Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E...	OMIM:619802
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os...	ORPHA:564003
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum	ORPHA:85198
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hy...	OMIM:226300
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess...	ORPHA:31202
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha...	OMIM:139090
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu...	OMIM:607078
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-react...	OMIM:614034
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ...	OMIM:618986
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Immunodeficiency 48	Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Panhypogammaglob...	OMIM:269840
Spondyloepiphyseal Dysplasia, Nishimura Type	Osteoarthritis, Delayed epiphyseal ossification	OMIM:618618
Boutonneuse Fever	Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Joint stiffness	ORPHA:1345
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level	OMIM:618495
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG...	OMIM:620210
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion cont...	ORPHA:85408
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Ascites	ORPHA:2198
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Hypochondroplasia	Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum	ORPHA:429
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Nephrotic syndrome, ...	OMIM:618999
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Bernard-Soulier Syndrome	Prolonged bleeding time, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired risto...	OMIM:231200
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Antineutrophil antibody positivity, Spleno...	OMIM:301078
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Ascites, Lymphadenopathy	ORPHA:100025
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:...	OMIM:608233
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin...	OMIM:256500
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Ecchymosis, Ascites, Petechiae	OMIM:619463
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Sclerosis of skull base, Incre...	ORPHA:2905
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Protrusio acetabuli, Limited hip movement, Hip osteoart...	ORPHA:99642
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Bleeding Disorder, Platelet-Type, 17	Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph...	OMIM:187900
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth...	OMIM:208230
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le...	OMIM:617099
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia	OMIM:238700
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm...	ORPHA:276
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Epiphyseal Dysplasia, Multiple, 2	Flattened knee epiphyses, Knee osteoarthritis, Osteochondritis dissecans, Genu varum	OMIM:600204
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ...	ORPHA:93351
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Hemochromatosis, Type 4	Osteoarthritis, Anemia	OMIM:606069
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ...	ORPHA:69735
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Focal Segmental Glomerulosclerosis 1	Hypertension, Pleural effusion, Ascites, Edema	OMIM:603278
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl...	ORPHA:206594
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Glucose in...	ORPHA:2298
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Chylous Ascites	Ascites, Lymphedema	ORPHA:1160
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ...	OMIM:615758
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Splenoportal Vascular Anomalies	Splenomegaly, Ascites	OMIM:271500
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Flexion contracture, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosi...	OMIM:212065
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ...	OMIM:601495
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
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia, Arthritis	ORPHA:448237
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal...	ORPHA:540
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, St...	OMIM:618282
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash, An...	OMIM:620321
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased...	OMIM:616740
Spondyloepimetaphyseal Dysplasia, Irapa Type	Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum	OMIM:271650
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leukopenia, Increas...	ORPHA:507
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity	OMIM:616414
Sézary Syndrome	Abnormal immunoglobulin level, Pruritus, Splenomegaly, Erythroderma, Abnormal lymphocyte morphology	ORPHA:3162
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Eosinophilia, Eczema, Craniosynostosis, Keratitis, Increased circulating IgE level, ...	OMIM:618523
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Stickler Syndrome Type 1	Joint hyperflexibility, Osteoarthritis	ORPHA:90653
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanth...	OMIM:619644
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Abno...	OMIM:226990
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Skin rash, Eosinophilia, Recurrent fractures, Craniosynostosis, Recurrent pneumonia, ...	OMIM:147060
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios	ORPHA:1046
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Ascites, Gingival blee...	ORPHA:99828
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge...	ORPHA:166011
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd...	ORPHA:93311
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Self-in...	ORPHA:324636
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Mucopolysaccharidosis, Type Ix	Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ...	OMIM:603554
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Patent ductus arteriosus,...	ORPHA:79329
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
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
Beta-Ketothiolase Deficiency	Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperuricemia, Oral aversion, Th...	ORPHA:134
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, Mon...	ORPHA:91139
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Wiskott-Aldrich Syndrome	Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Ab...	OMIM:301000
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife...	ORPHA:99867
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulcerative c...	ORPHA:2137
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:301074
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp...	ORPHA:324964
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Angiostrongyliasis	Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig...	ORPHA:74
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Glycogen Storage Disease Iv	Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ...	OMIM:232500
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Edema, Pulmonary embolism, Co...	ORPHA:90308
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephrit...	ORPHA:139402
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ...	ORPHA:90363
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr...	ORPHA:77259
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist	ORPHA:1657
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Osteoporosis	ORPHA:77296
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Decreased circulating tot...	OMIM:612301
Ulnar Hemimelia	Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec...	ORPHA:93320
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash	OMIM:619175
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Brucellosis	Osteomyelitis, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration...	ORPHA:1304
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Congenital Ichthyosiform Erythroderma	Keratitis, Erythroderma, Pruritus	ORPHA:79394
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites	ORPHA:87876
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites	OMIM:174050
Schimke Immuno-Osseous Dysplasia	Proteinuria, Impaired T cell function, Microscopic hematuria, Minimal change glomerulonephritis, ...	ORPHA:1830
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy	ORPHA:26790
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis	OMIM:121270
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, B ...	OMIM:602450
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites	OMIM:269920
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic...	ORPHA:2848
Hepatic Veno-Occlusive Disease	Hepatomegaly, Ascites	ORPHA:890
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Arthriti...	OMIM:607115
Quinquaud Folliculitis Decalvans	Pustule, Recurrent skin infections	ORPHA:346
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Omenn Syndrome	Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnorma...	ORPHA:39041
Familial Atrial Myxoma	Tricuspid regurgitation, Congestive heart failure, Heart murmur, Pedal edema, Ascites	ORPHA:615
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Flexion contracture, Anemia, Leukopenia, Increased circulating IgM level, Hypoalbum...	OMIM:617303
Bleeding Disorder, Platelet-Type, 12	Joint hemorrhage, Impaired platelet aggregation	OMIM:605735
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules	OMIM:614075
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrio...	OMIM:115197
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor...	ORPHA:37042
Florid Cemento-Osseous Dysplasia	Chronic infection, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bo...	ORPHA:83451
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites, Oligoh...	OMIM:614702
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left ve...	ORPHA:57777
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Netherton Syndrome	Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro...	ORPHA:634
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr...	ORPHA:29073
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Flexion contracture, Anemia, Arthritis, Increased circulating...	OMIM:617591
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,...	OMIM:603553
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Limit...	ORPHA:47612
Alg12-Cdg	Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib...	ORPHA:79324
Laron Syndrome	Osteoarthritis, Abnormality of the elbow	ORPHA:633
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro...	ORPHA:90362
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Congenital Toxoplasmosis	Hepatomegaly, Ascites, Lymphadenopathy	ORPHA:858
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Leukopenia, Recurrent hypoglycem...	ORPHA:20
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Bone Marrow Failure Syndrome 4	Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th...	OMIM:618116
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Ascites, Hydrops fetalis, Polyhydramnios	ORPHA:2123
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,...	ORPHA:36234
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar...	OMIM:614204
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Enthesitis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth...	ORPHA:85438
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma	ORPHA:312
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Hemochromatosis, Type 1	Hepatomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopathy, Pleural eff...	OMIM:235200
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo...	OMIM:259100
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Pemphigus Foliaceus	Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis	ORPHA:71
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ...	ORPHA:79106
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno...	ORPHA:793
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Pseudoachondroplasia	Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car...	OMIM:177170
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor...	ORPHA:848
Subcorneal Pustular Dermatosis	Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl...	ORPHA:87503
Hemochromatosis, Type 3	Arthritis, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Potocki-Lupski Syndrome	Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hypocholesterolemia	OMIM:610883
Tick-Borne Encephalitis	Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Leukop...	ORPHA:297
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis	OMIM:603165
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Pruritus, Myocarditis, Leukocytosis, Splenomegaly, Hepatit...	ORPHA:829
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Von Willebrand Disease, Type 1	Prolonged bleeding time, Impaired platelet aggregation, Joint hemorrhage	OMIM:193400
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia	OMIM:246400
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o...	OMIM:251450
Vertical Talus, Congenital	Arthritis	OMIM:192950
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Hip subluxation, Generalized joint laxity, Delayed epiphyseal ossification, Prematu...	ORPHA:93360
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Congenital Disorder Of Glycosylation, Type Iir	Hepatomegaly, Ascites	OMIM:301045
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Chronic ...	ORPHA:33355
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Polyarticular arthritis, Lymphopenia, Thr...	OMIM:616744
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Neuraminidase Deficiency	Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Ascites	OMIM:256550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca...	OMIM:618000
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Delayed ossification of carpal bones, Erythro...	OMIM:617425
Rift Valley Fever	Anorexia, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:319251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Congen...	ORPHA:77297
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Osteoporosis, Increased proportion of...	ORPHA:98848
Melorheostosis	Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness	ORPHA:2485
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia	OMIM:607765
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Ichthyosis With Confetti	Pruritus, Erythroderma	OMIM:609165
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Acquired Partial Lipodystrophy	Insulin resistance, Decreased circulating complement C3 concentration, Lymphocytosis	ORPHA:79087
Lymphoproliferative Syndrome 2	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites	OMIM:615122
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu...	OMIM:613179
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi...	ORPHA:85410
Tularemia	Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta...	ORPHA:3392
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level, Increased ser...	OMIM:222470
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
Free Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis	ORPHA:834
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive heart fa...	ORPHA:367
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Increased circulati...	ORPHA:505248
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility	OMIM:108300
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites	OMIM:608776
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Diffuse Cutaneous Mastocytosis	Pruritus, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis, Erythroderma	ORPHA:79456
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys...	ORPHA:94093
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Ichthyosis, Congenital, Autosomal Recessive 1	Flexion contracture, Erythroderma	OMIM:242300
Elastoderma	Erysipelas, Eczema	ORPHA:228240
Ovarian Hyperstimulation Syndrome	Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm...	ORPHA:64739
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Erythroderma	ORPHA:313
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of...	ORPHA:231222
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Generalized mornin...	ORPHA:85436
Spondyloepimetaphyseal Dysplasia, Missouri Type	Osteoarthritis, Limited elbow extension, Genu varum	OMIM:602111
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil...	OMIM:300972
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypocholesterolemia	OMIM:266510
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psorias...	ORPHA:49041
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly,...	ORPHA:64743
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Pfapa Syndrome	Splenomegaly, Arthritis, Infectious encephalitis	ORPHA:42642
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia	OMIM:619851
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se...	OMIM:261740
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita...	ORPHA:1427
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo...	ORPHA:2796
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Hepatosplenomegaly, Lymphadenopa...	ORPHA:98850
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Ascites, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:83469
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Li...	ORPHA:39812
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Ascites	ORPHA:131
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens...	ORPHA:139411
Harlequin Ichthyosis	Limitation of joint mobility, Erythroderma	ORPHA:457
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Cystic Echinococcosis	Eosinophilia, Abscess, Renal cyst, Membranous nephropathy, Increased circulating antibody level, ...	ORPHA:400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets	OMIM:307800
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Pleural effusion, ...	ORPHA:36412
Mulibrey Nanism	Congestive heart failure, Ascites, Hydrops fetalis, Hepatomegaly	OMIM:253250
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv...	OMIM:142680
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Bradycardia, Pleural effusion, Ascites, Petechiae	OMIM:617397
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Idiopathic Pulmonary Hemosiderosis	Iron deficiency anemia, Glomerulonephritis, Hepatosplenomegaly	ORPHA:99931
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Wolman Disease	Splenomegaly, Hepatomegaly, Ascites	ORPHA:75233
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero...	OMIM:618156
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Genu varum	ORPHA:93356
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis, Conjunctiviti...	ORPHA:575
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Paraproteinemia, Flexion contracture, Mildly elevated creatine kinase	ORPHA:171442
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel...	ORPHA:342
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Idiopathic Camptocormia	Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis	ORPHA:1320
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy, Ascites, Edema	OMIM:611719
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Decreased glomerular filtration rate, Ornithinuria, Argininuria,...	ORPHA:470
Familial Cold Urticaria	Pruritus, Arthritis, Conjunctivitis	ORPHA:47045
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema	ORPHA:168811
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria,...	ORPHA:536
Japanese Encephalitis	Hyponatremia, Neutrophilia, Stiff neck, Anorexia, Elbow flexion contracture, Increased circulatin...	ORPHA:79139
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu...	ORPHA:227990
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Nonimmune hydrops fetalis, Hypertension, Second degree atrioventricular block, Pulmonary arterial...	OMIM:617021
Lassa Fever	Increased circulating IgM level, Dysphagia	ORPHA:99824
Bathing Suit Ichthyosis	Multiple joint contractures, Erythroderma	ORPHA:100976
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Pa...	OMIM:615966
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Ovarian Fibroma	Pleural effusion, Ascites	ORPHA:314473
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Immunodeficiency 67	Transient neutropenia, Liver abscess, Increased circulating IgE level	OMIM:607676
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Dubowitz Syndrome	Hyperactivity, Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolemia, Decreased circ...	OMIM:223370
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Prolonged prothrombin time, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Pedal edema, Lymphadenopathy, Ascites	ORPHA:381
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Increased circulating IgE level, Imbalanced he...	ORPHA:330015
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Niemann-Pick Disease, Type A	Splenomegaly, Hepatomegaly, Ascites, Lymphadenopathy	OMIM:257200
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar...	ORPHA:2035
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B...	OMIM:619381
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased L...	ORPHA:14
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Osteoporosis, Increased circulati...	ORPHA:186
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Flexion contracture, Neonatal epiphyseal stippling, Anterior rib p...	ORPHA:35173
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu...	ORPHA:227982
Hemochromatosis, Type 2A	Splenomegaly, Arthritis	OMIM:602390
Interstitial Lung And Liver Disease	Thrombocytosis, Hyperammonemia, Anemia	OMIM:615486
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper...	OMIM:256040
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Flexion contracture, Premature osteoarthritis, Recurrent pneumonia, Enlarged joints	OMIM:215150
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Autoimmune antibo...	ORPHA:293978
Ebola Hemorrhagic Fever	Leukopenia, Increased circulating antibody level, Dysphagia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia	OMIM:617056
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Alkaptonuria	Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join...	ORPHA:56
Multiple Epiphyseal Dysplasia Type 4	Dislocation of the femoral head, Joint stiffness, Premature osteoarthritis, Delayed femoral head ...	ORPHA:93307
Mogs-Cdg	Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea...	ORPHA:79330
Eosinophilic Gastroenteritis	Hematochezia, Ascites, Edema	ORPHA:2070
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom...	ORPHA:99827
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,...	ORPHA:335
Cholestasis, Progressive Familial Intrahepatic, 3	Splenomegaly, Hepatomegaly, Ascites	OMIM:602347
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Joint swelling, Juvenile rheumatoid arth...	ORPHA:85414
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed...	ORPHA:93314
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Gene...	ORPHA:93352
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Abnormality of neutrophils, Anorexia, Splenomegaly, Leukemia...	ORPHA:33226
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Erythroderma	OMIM:609180
Congenital Sialidosis Type 2	Abnormal EKG, Hepatomegaly, Edema, Telangiectasia, Hepatosplenomegaly, Ascites, Petechiae	ORPHA:93400
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia	ORPHA:375
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl...	ORPHA:567546
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis, Hypochromic microcytic anemia	OMIM:619423
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Erythrode...	OMIM:615895
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Elevated circulating C-reactive...	ORPHA:2902
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia	OMIM:170100
Protoporphyria, Erythropoietic, 1	Pruritus, Hemolytic anemia, Eczema	OMIM:177000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pleural effusion, Ascites	OMIM:616897
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis	OMIM:253260
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Oliguri...	ORPHA:340
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand	OMIM:190350
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Ascites, Edema, Oligohydramnios	OMIM:608104
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Erythroderma	OMIM:242150
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymp...	OMIM:235255
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Spl...	ORPHA:809
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Polyclonal elevation of I...	ORPHA:171
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Wilson Disease	Pruritus, Thrombocytopenia, Splenomegaly, Hepatitis, Arthritis, Joint swelling, Acute hepatitis, ...	ORPHA:905
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali...	ORPHA:178320
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Gaucher Disease	Osteopenia, Joint dislocation, Pancytopenia, Osteomyelitis, Increased bone mineral density, Recur...	ORPHA:355
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangiopathic hem...	ORPHA:93552
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro...	ORPHA:167
Wild Type Abeta2M Amyloidosis	Arthropathy, Arthritis	ORPHA:85446
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Increased circulatin...	ORPHA:228123
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	OMIM:600081
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ...	ORPHA:343
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Scedosporiosis	Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ...	ORPHA:449280
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Abnormality of the ki...	ORPHA:90291
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ascites	OMIM:602361
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Granuloma, Increased circulating IgM level, Hyperbilirubinemia	ORPHA:562639
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Pal...	ORPHA:100085
Ataxia-Telangiectasia	Decreased circulating IgG level, Diabetes mellitus, Elevated circulating alpha-fetoprotein concen...	OMIM:208900
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci...	ORPHA:79078
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Synostosis of joints, Splenomegaly	ORPHA:61
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegal...	OMIM:613327
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Decreased circulating IgG level, Flexion contracture, Erythroderma	OMIM:601675
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Macrophage Activation Syndrome	Increased inflammatory response, Autoimmunity, Splenomegaly, Hepatitis, Systemic lupus erythemato...	ORPHA:158061
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Anemia, Arthritis	ORPHA:3287
Necrotizing Enterocolitis	Shock, Edema, Bradycardia, Hypotension, Ascites	ORPHA:391673
Marshall Syndrome	Osteoarthritis, Genu valgum	ORPHA:560
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating creatine ki...	ORPHA:99829
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Xerostomia, Ascites, Mucosal telangiectasiae	ORPHA:779
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Alg8-Cdg	Ascites, Hydrops fetalis, Edema, Oligohydramnios	ORPHA:79325
Ovarian Fibrothecoma	Pleural effusion, Ascites	ORPHA:314478
Cirrhosis, Familial	Hypertension, Ascites, Pulmonary arterial hypertension	OMIM:215600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T...	ORPHA:760
Classic Galactosemia	Hepatomegaly, Ascites	ORPHA:79239
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat...	ORPHA:125
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Portal hypertension, Absence of lymph node germinal center, Hepatosplenomegaly, Asc...	ORPHA:79124
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Joint hypermobility, Thromb...	OMIM:617052
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ...	OMIM:300554
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascite...	OMIM:608013
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hepatosplenomegaly,...	OMIM:619487
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L...	ORPHA:538
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic rickets, Thin ...	OMIM:241530
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hydrops fetalis, Lymphedema	ORPHA:584
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l...	ORPHA:449427
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circula...	ORPHA:2314
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ...	OMIM:620005
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Atypical or pr...	OMIM:277900
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Loeys-Dietz Syndrome 5	Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture...	OMIM:615582
Gaucher Disease Type 3	Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping, Joint hypermobility	OMIM:617101
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Supraventricular tachycardia, Abnormal bleeding, Hepatomega...	ORPHA:97214
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Sclerosing Cholangitis, Neonatal	Splenomegaly, Hepatomegaly, Ascites, Portal hypertension	OMIM:617394
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Chondrodysplasia Punctata 2, X-Linked Dominant	Epiphyseal stippling, Stippled calcification in carpal bones, Patellar dislocation, Tarsal stippl...	OMIM:302960
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Dowling-Degos Disease	Pruritus, Arthritis, Acne inversa	ORPHA:79145
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Irregular...	OMIM:260400
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex...	ORPHA:3409
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma...	ORPHA:508542
Rhabdoid Tumor	Hypertension, Internal hemorrhage, Lymphadenopathy	ORPHA:69077
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas...	ORPHA:1655
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H...	OMIM:618278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Ataxia-Telangiectasia	Lymphopenia, Decreased circulating antibody level	ORPHA:100
Nail-Patella Syndrome	Flexion contracture, Patellar hypoplasia, Reduced bone mineral density, Knee flexion contracture,...	ORPHA:2614
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	OMIM:277440
Roifman Syndrome	Hepatosplenomegaly, Decreased T cell activation, Eosinophilia, Decreased circulating antibody level	ORPHA:353298
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia	OMIM:612561
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr...	ORPHA:83617
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Ascites, Portal hypertension	ORPHA:974
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Adiposis Dolorosa	Arthritis, Recurrent skin infections	ORPHA:36397
Roifman-Chitayat Syndrome	Osteopenia, Arthritis, Pneumonia	OMIM:613328
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the...	ORPHA:29207
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc...	ORPHA:183
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Pruritus, Erythema nodosum, Crusting erythem...	ORPHA:324625
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk...	ORPHA:293173
Dent Disease 1	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	OMIM:300009
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis	OMIM:232800
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Cervical subluxation	OMIM:184100
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join...	ORPHA:169802
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, N...	ORPHA:2909
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Farber Disease	Hydrops fetalis, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Ascites	ORPHA:333
Hennekam Syndrome	Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp...	ORPHA:2136
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Hepatomegaly, Ascites, Portal hypertension	OMIM:251880
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's...	OMIM:249100
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiect...	ORPHA:169105
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	ORPHA:289157
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis...	OMIM:251260
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Prolonged prothrombin time, Hype...	OMIM:276700
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Diabetes mellitus, Elevated circulating alpha-fetopro...	ORPHA:90003
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep...	ORPHA:1855
Listeriosis	Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv...	ORPHA:533
Peripheral Primitive Neuroectodermal Tumor	Abnormal bleeding, Ascites, Pelvic mass	ORPHA:370348
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis	ORPHA:3099
Q Fever	Osteomyelitis, Anorexia, Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Increased circulati...	ORPHA:781
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Increased ci...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Aspergillosis	Increased circulating IgE level, Eosinophilia, Osteomyelitis, Neutropenia	ORPHA:1163
Aapoaiv Amyloidosis	Diabetes mellitus, Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration	ORPHA:439232
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ...	ORPHA:284984
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Protrusio acetabuli, Joint hypermobility, Fractures of the long ...	ORPHA:666
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Pleural effusion, Ascites	OMIM:306400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ...	ORPHA:391487
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ...	ORPHA:96123
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Leukocytosis, Patellar aplasia, Hip dislocation, Hepatosplen...	OMIM:274000
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i...	ORPHA:90068
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout	ORPHA:411543
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221008
Cryoglobulinemic Vasculitis	Splenomegaly, Viral hepatitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:91138
Hunter-Macdonald Syndrome	Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c...	OMIM:611962
Whipple Disease	Myositis, Pericarditis, Myocarditis, Splenomegaly, Uveitis, Arthritis, Infectious encephalitis, A...	ORPHA:3452
Gallbladder Neuroendocrine Tumor	Ascites, Chronic noninfectious lymphadenopathy	ORPHA:100086
Wolcott-Rallison Syndrome	Hepatomegaly, Ascites, Dehydration	ORPHA:1667
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level	OMIM:619750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Bone cyst, Abnormal spleen morphology, Increased circulating antibod...	ORPHA:284
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ...	ORPHA:91500
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative...	ORPHA:810
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hydrops fetalis	OMIM:614091
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Pulmonary arterial hypertension, Asc...	OMIM:620244
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Flexion contracture, Aspiration pneu...	OMIM:301072
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia	OMIM:617827
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit...	ORPHA:589
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Thrombocyto...	OMIM:615846
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221016
Stickler Syndrome	Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Reduced bone mi...	ORPHA:828
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Cervical lymphadenopathy, Dilated cardiomyopathy, Hypertension, Anasarca, Third deg...	OMIM:619573
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Moderate Hemophilia A	Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo...	ORPHA:169805
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Ascites, Polysplenia	OMIM:200995
Lymphatic Malformation 12	Fetal ascites, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema	OMIM:620014
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Rheumatoid Arthritis	Joint swelling, Polyarticular arthritis, Rheumatoid arthritis, Joint stiffness	OMIM:180300
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Joint swelling, Stiff interp...	ORPHA:465508
Lysosomal Acid Lipase Deficiency	Hypersplenism, Hypovolemia, Dehydration, Hepatosplenomegaly, Hypotension, Pulmonary arterial hype...	ORPHA:275761
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites	OMIM:620369
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Igg4-Related Thyroid Disease	Hypocalcemia, Increased circulating IgG4 level, Dysphagia	ORPHA:64744
Vici Syndrome	Decreased circulating IgG level, Elevated circulating creatine kinase concentration, Decreased ci...	OMIM:242840
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea...	OMIM:242900
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Impaired platelet aggregation, Chondrocalcinosis	OMIM:241200
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Caroli Disease	Splenomegaly, Hepatomegaly, Ascites, Portal hypertension	ORPHA:53035
Osteopetrosis, Autosomal Recessive 5	Splenomegaly, Hepatomegaly, Ascites, Hepatosplenomegaly	OMIM:259720
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Polyhydramnios, Edema, Splenomegaly, Ascites	OMIM:269860
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the thymus, Abnormal abdomen morphology, A...	ORPHA:97261
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Atresia Of Urethra	Ascites, Pulmonary insufficiency, Oligohydramnios	ORPHA:105
Macrocephaly/Autism Syndrome	Splenomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thro...	ORPHA:464343
Classical Ehlers-Danlos Syndrome	Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo...	ORPHA:287
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Congenital Enterovirus Infection	Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops feta...	ORPHA:292
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Smith-Lemli-Opitz Syndrome	Hyperactivity, Aggressive behavior, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated...	OMIM:270400
Functioning Gonadotropic Adenoma	Ascites	ORPHA:91348
Xfe Progeroid Syndrome	Hypertension, Ascites	OMIM:610965
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Acromegaly	Joint swelling, Osteoarthritis, Acne	ORPHA:963
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, Contracture of the proximal interphalangeal join...	OMIM:618223
Doors Syndrome	Thrombocytosis, Sagittal craniosynostosis	ORPHA:79500
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita...	ORPHA:740
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Senior-Boichis Syndrome	Hypertension, Ascites, Portal hypertension, Hepatosplenomegaly	ORPHA:84081
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Fraser Syndrome 3	Ascites, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:617667
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Joint stiffness	ORPHA:1493
Mucopolysaccharidosis Type 2	Splenomegaly, Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the...	ORPHA:580
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Moderate albuminuria, ...	OMIM:619525
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Marfan Syndrome	Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl...	OMIM:154700
Localized Scleroderma	Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has...	ORPHA:90289
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cheilitis, Arthritis, Conjunctivit...	ORPHA:2331
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Ascites, Polyhydramnios	OMIM:617156
22Q11.2 Deletion Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Multiple suture craniosynost...	ORPHA:567
Dent Disease	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	ORPHA:1652
Cutis Marmorata Telangiectatica Congenita	Ascites, Telangiectasia of the skin, Subcutaneous hemorrhage, Purpura	ORPHA:1556
Intrahepatic Cholestasis Of Pregnancy	Ascites	ORPHA:69665
Hellp Syndrome	Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ...	ORPHA:244242
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Polymyositis	Arthritis, Pericarditis, Chondrocalcinosis	ORPHA:732
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology	ORPHA:97278
Igg4-Related Ophthalmic Disease	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Eosinophi...	ORPHA:449563
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Perlman Syndrome	Ascites, Polyhydramnios, Visceromegaly, Edema	OMIM:267000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Joint stiffness, Flexion contracture, Self-injurious behavior, Anemia	ORPHA:847
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Pruritus, Limitation of joint mobility, Arthritis	ORPHA:93672
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Noonan Syndrome	Abnormality of the spleen, Radioulnar synostosis, Abnormal platelet function, Joint hyperflexibility	ORPHA:648
Loeys-Dietz Syndrome 3	Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ...	OMIM:613795
Say-Barber-Miller Syndrome	Craniosynostosis, Transient hypogammaglobulinemia of infancy, Elbow flexion contracture, Decrease...	ORPHA:3132
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Hepatosplenomegaly...	ORPHA:731
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Delayed ossification of carpal bones, Neutropenia, Laryngotracheomalacia, Decreased c...	OMIM:271510
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Cutis Laxa, Autosomal Recessive, Type Ic	Periorbital edema, Ascites, Hypoplasia of the thymus, Accessory spleen	OMIM:613177
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob...	ORPHA:89936
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Attention deficit hyperact...	OMIM:617062
Vipoma	Hepatomegaly, Abnormal abdomen morphology, Dehydration, Hematochezia, Ascites	ORPHA:97282
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Seborrheic dermatitis	ORPHA:369950
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis	ORPHA:92050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Seborrheic dermatitis, Flexion contracture, Elbow flexion contracture, Knee flex...	OMIM:300868
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology	ORPHA:97283
Mitchell-Riley Syndrome	Ascites	OMIM:615710
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Scleromyxedema	Paraproteinemia, Elevated circulating creatine kinase concentration, Dysphagia	ORPHA:167635
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Fumarase Deficiency	Ascites, Polyhydramnios	OMIM:606812
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis	ORPHA:276280
Somatomammotropinoma	Joint swelling, Osteoarthritis	ORPHA:314769
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Increased nuchal translucency, Ascites, Polyhydramnios	ORPHA:1052
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Iridocyclitis, Splenomegaly, Bronchiectasis, Uvei...	OMIM:181000
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Autoimmune antibody positivity, Reduced bone mineral density, Con...	ORPHA:79443
Glycogen Storage Disease Ib	Splenomegaly, Osteoporosis, Gout, Inflammation of the large intestine, Neutropenia, Pancreatitis	OMIM:232220
Digeorge Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent ...	OMIM:188400
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections	ORPHA:94059
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology	ORPHA:97280
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Abnormality of the elbow, ...	ORPHA:707
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level...	ORPHA:1572
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Encephalitis Lethargica	Stiff neck, Increased circulating antibody level	ORPHA:83600
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis	OMIM:232240
Marshall Syndrome	Recurrent otitis media, Knee osteoarthritis	OMIM:154780
Giant Cell Arteritis	Arthritis, Pericarditis, Joint stiffness	ORPHA:397
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Ascites	OMIM:256810
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic m...	OMIM:301040
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Leukocytosis,...	ORPHA:544482
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites	ORPHA:646
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level	OMIM:248500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Chronic neutropenia, Osteoporosis, Enterocolitis, Ulcerative colitis, Gout, Thyroidit...	ORPHA:79259
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Anasarca, Ascites	OMIM:203700
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anasarca, Ascites, Portal hypertension, Oligohydramnios	OMIM:613658
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level	OMIM:613385
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Edema, Polyhydramnios, Pericardial effusion, Retinal hemorrhage, Hydro...	ORPHA:51608
Viss Syndrome	Joint laxity, Generalized joint laxity, Increased circulating IgE level, Hypereosinophilia, Incre...	OMIM:619472
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Neonatal alloimmune thrombocytopenia, Hepatosp...	ORPHA:51
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Hip dislocation, Erythroderma	OMIM:308205
Glycogen Storage Disease Ia	Osteoporosis, Pancreatitis, Gout	OMIM:232200
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Pruritus, Myocarditis, Arthritis, Chondrocalcinosis	ORPHA:221
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest,...	OMIM:619534
Whim Syndrome	Lymphopenia, Neutropenia, Abnormal neutrophil morphology, Decreased circulating antibody level	ORPHA:51636
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis	OMIM:161700
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Recurrent fractures, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Anem...	ORPHA:534
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility...	ORPHA:286
Liver Disease, Severe Congenital	Hepatomegaly, Splenomegaly, Abnormal left ventricular function, Ascites, Systolic heart murmur, P...	OMIM:619991
Multiple Osteochondromas	Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul...	ORPHA:321
Trichinellosis	Increased circulating IgE level, Dysphagia	ORPHA:863
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hyperflexibility	ORPHA:93111
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Abn...	ORPHA:642
Cysticercosis	Stiff neck, Increased circulating antibody level	ORPHA:1560
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Hypoglycemia, Camptodactyly of finger, Splenomegaly, Increased circulating IgE ...	ORPHA:373
Cartilage-Hair Hypoplasia	Neutropenia, Anemia, Decreased circulating antibody level	ORPHA:175
Alström Syndrome	Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Glomerulo...	ORPHA:64
Fabry Disease	Arthritis, Anemia, Reduced bone mineral density	ORPHA:324
Superficial Siderosis	Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Decreased circulating antibody level	ORPHA:79396
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Hepatos...	ORPHA:217085
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Hepatos...	ORPHA:217093
Chronic Graft Versus Host Disease	Pleural effusion, Ascites, Xerostomia	ORPHA:99921
Johanson-Blizzard Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Dilated cardiomyopathy, Anasarca, Ascites, Gener...	OMIM:243800
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia	ORPHA:99843
Sarcoidosis	Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Bone cyst, Anemia, Leukope...	ORPHA:797
Gitelman Syndrome	Gout, Tubulointerstitial nephritis, Iron deficiency anemia, Hashimoto thyroiditis, Chondrocalcinosis	ORPHA:358
Aspartylglucosaminuria	Chronic otitis media, Arthritis, Joint stiffness, Splenomegaly	ORPHA:93
Tetrasomy 9P	Joint dislocation, Arthritis, Myositis, Pericarditis	ORPHA:3310
Lacrimoauriculodentodigital Syndrome	Arthritis, Keratoconjunctivitis sicca, Keratoconjunctivitis	ORPHA:2363
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Choreoacanthocytosis	Splenomegaly, Arthritis, Abnormal erythrocyte enzyme level, Acanthocytosis	ORPHA:2388
Noonan Syndrome 1	Cubitus valgus, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis	OMIM:163950
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage, Pulmonary lymphangiomyomatosis	ORPHA:805
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sagittal craniosynostosis, Hyperextensible hand joints, Secretory IgA deficiency, Dysphagia, Hype...	ORPHA:500150
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Recurrent skin infections, Camptodactyly of finger, Synovitis, Widely patent fontanel...	ORPHA:3455
Sponastrime Dysplasia	Neutropenia, Decreased circulating antibody level	ORPHA:93357
Familial Cold Autoinflammatory Syndrome 3	Pruritus, Recurrent otitis media, Allergic rhinitis, Hashimoto thyroiditis	OMIM:614468
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Decreased circulating antibody level	ORPHA:261552

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 Plcg2

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 Plcg2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Plcg2^{em1(IMPC)Wtsi}	PMC7263671

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
Plcg2^{em1(IMPC)Wtsi}	Deletion	Mice
Plcg2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Plcg2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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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