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Gene: Sh3bp2 MGI:1346349

Gene Summary

Name:

SH3-domain binding protein 2

Synonyms:

3BP2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
short tibia		Sh3bp2^{tm1b(KOMP)Wtsi}	HOM		Early adult	2.38×10^-05
increased circulating aspartate transaminase level		Sh3bp2^{tm1b(KOMP)Wtsi}	HOM		Early adult	2.14×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Histopathology

Images

3 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Sh3bp2 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 Sh3bp2 (2 diseases)
Human diseases predicted to be associated with Sh3bp2 (1475 diseases)

The table below shows human diseases associated to Sh3bp2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cherubism		Bone cyst	ORPHA:184
Cherubism		Narrow palate, Lower eyelid retraction, Jaw swelling, Dental malocclusion, Multiple impacted teet...	OMIM:118400

The table below shows human diseases predicted to be associated to Sh3bp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin...	OMIM:615615
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr...	OMIM:619924
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl...	OMIM:619707
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop...	OMIM:618459
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Decreased CD4:CD8 ratio, Complete or ...	OMIM:607271
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I...	OMIM:611926
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne...	OMIM:619281
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ...	OMIM:620430
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu...	OMIM:240500
Immunodeficiency 102	Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Partial absence of speci...	OMIM:301082
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Osteochondrosis Of The Metatarsal Bone	Osteochondrosis, Avascular necrosis, Flattened metatarsal heads, Abnormality of the third metatar...	ORPHA:564003
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Lymphoproliferative Syndrome 3	Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo...	OMIM:618261
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Gorham-Stout Disease	Abnormal bone ossification, Elevated alkaline phosphatase of bone origin, Abnormal femur morpholo...	ORPHA:73
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory...	OMIM:618394
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c...	OMIM:619510
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Avascular ne...	ORPHA:53
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas...	OMIM:614069
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr...	OMIM:614372
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating...	OMIM:613501
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Intermediate Osteopetrosis	Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen...	ORPHA:210110
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas...	ORPHA:3152
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis,...	OMIM:619652
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi...	ORPHA:79106
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Acne, Anemia, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infection, Increased ...	ORPHA:98813
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel...	OMIM:615592
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur...	OMIM:614700
Graft Versus Host Disease	Limited elbow movement, Elevated circulating hepatic transaminase concentration, Inflammatory abn...	ORPHA:39812
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Immunodeficiency 96	Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-...	OMIM:619774
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia...	OMIM:618282
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf...	OMIM:616100
Immunodeficiency 27A	Anemia, Lymphadenopathy, Diarrhea, Increased circulating IgG level, Salmonella osteomyelitis, Leu...	OMIM:209950
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce...	OMIM:618982
Osteochondrosis Of The Tarsal Bone	Osteochondritis dissecans, Tarsal sclerosis, Avascular necrosis, Arthritis, Abnormal tarsal ossif...	ORPHA:563991
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, An...	OMIM:259710
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c...	OMIM:620210
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Mazabraud Syndrome	Fibrous dysplasia of the bones, Recurrent fractures	ORPHA:57782
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Autosomal Agammaglobulinemia	Chronic otitis media, Recurrent respiratory infections, Diarrhea, Arthritis, Skin rash, High pala...	ORPHA:33110
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Skin rash, Joint stiffness, Pericarditis, Leukopenia, Splenomegaly, ...	ORPHA:809
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g...	OMIM:608184
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Skin rash, Chronic diarrhea, Glossoptosis,...	ORPHA:47
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Majeed Syndrome	Metaphyseal irregularity, Acne, Hypochromic microcytic anemia, Hepatomegaly, Increased bone miner...	ORPHA:77297
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG...	OMIM:619220
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:169160
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Papa Syndrome	Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Limi...	ORPHA:69126
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Poikiloderma With Neutropenia	Retrognathia, Recurrent otitis media, Neutropenia, Skin rash, Micrognathia, Elevated circulating ...	OMIM:604173
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease...	OMIM:615767
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros...	OMIM:607634
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Polyarticular arthritis, Bone pain, Myositis, Skin ras...	OMIM:142680
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Immunodeficiency 10	Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Inc...	OMIM:612783
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Panniculitis, Anemia, Elevated circulating hepatic transamina...	OMIM:617591
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Mueller-Weiss Syndrome	Fragmented, irregular epiphyses, Avascular necrosis, Joint subluxation, Knee osteoarthritis, Arth...	ORPHA:566943
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Anemia, Pancytopenia, Incr...	OMIM:259700
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Neuropathy, Hereditary Sensory, Type If	Neuropathic arthropathy, Osteolytic defects of the phalanges of the hand, Metatarsal fracture, Ha...	OMIM:615632
Pachydermoperiostosis	Gastrointestinal hemorrhage, Seborrheic dermatitis, Splenomegaly, Abnormal epiphysis morphology, ...	ORPHA:2796
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo...	OMIM:618108
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Paget disease of bone, Myositis, Rimmed vacuoles, Elevated circulating creatine kinase concentrat...	OMIM:615422
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal intestine morphology, Splenomeg...	ORPHA:37042
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia...	OMIM:614470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Muscular dystrophy, Muscle eosinophilia, Myositis, Scapular winging, Facial palsy, Elevated circu...	OMIM:253600
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased...	ORPHA:276
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci...	OMIM:300635
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Decrease...	OMIM:619381
Immunodeficiency, Common Variable, 6	Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:613496
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Mycetoma	Bone cyst, Abnormal appendicular skeleton morphology, Abnormal bone structure, Abnormality of the...	ORPHA:2583
Aspergillosis	Hypersensitivity pneumonitis, Abnormal long bone morphology, Pleuritis, Increased circulating IgE...	ORPHA:1163
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ...	OMIM:612852
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J...	ORPHA:2485
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, I...	OMIM:615934
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Immunodeficiency 38 With Basal Ganglia Calcification	Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:616126
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c...	OMIM:243700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Chronic otitis media, Atelectasis, Delayed eruption of teeth, Skin rash, Increased ci...	ORPHA:2314
Majeed Syndrome	Bone pain, Skin rash, Anemia of inadequate production, Delayed skeletal maturation, Inflammatory ...	OMIM:609628
Epiphyseal Dysplasia, Multiple, 3	Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, K...	OMIM:600969
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I...	ORPHA:36234
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent...	OMIM:616576
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Periosteal thickening of long tubul...	ORPHA:1310
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Familial Expansile Osteolysis	Pathologic fracture, Thin bony cortex, Bowing of the long bones, Osteolysis	OMIM:174810
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Fusariosis	Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth...	ORPHA:228119
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Decreased CD4...	OMIM:300853
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat...	OMIM:606367
Immunodeficiency 22	Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p...	OMIM:615758
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A...	ORPHA:277
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko...	OMIM:615285
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys...	OMIM:144750
Talo-Patello-Scaphoid Osteolysis	Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os...	ORPHA:50809
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Osteoporosis	Osteoporosis	OMIM:166710
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency 31C	Osteopenia, Chronic oral candidiasis, Autoimmune hemolytic anemia, Protein-losing enteropathy, Im...	OMIM:614162
Cranio-Osteoarthropathy	Abnormal cortical bone morphology, Abnormal tibia morphology, Arthritis, Eczematoid dermatitis, J...	ORPHA:1525
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Skin rash, Bone...	ORPHA:37748
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio...	ORPHA:85435
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Sapho Syndrome	Steatorrhea, Acne, Hyperostosis, Arthritis, Skin rash, Bone pain, Chronic diarrhea, Abnormal sacr...	ORPHA:793
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphy...	OMIM:265900
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly	ORPHA:100025
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-cas...	ORPHA:227990
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection...	ORPHA:444463
Eosinophilic Fasciitis	Myositis, Arthritis, Abnormal eosinophil morphology, Muscular edema, Eosinophilia, Fasciitis	ORPHA:3165
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem...	OMIM:603909
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ...	ORPHA:2114
Ficolin 3 Deficiency	Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat...	OMIM:613860
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Knee pain, Short long bone, ...	ORPHA:93308
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Aplasia of...	OMIM:102700
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Abnor...	ORPHA:319552
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat...	ORPHA:169154
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections	OMIM:616022
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, Diarrhea, Chronic...	OMIM:608971
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bon...	ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616910
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio...	OMIM:620565
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Ck Syndrome	Retrognathia, Abnormal cortical bone morphology, High palate, Abnormal digit morphology, Almond-s...	OMIM:300831
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ...	OMIM:166600
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Skin rash, Pericarditis, Splenomegaly, Conjunctivitis, Uveitis, Recurrent...	ORPHA:32960
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p...	OMIM:301045
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou...	OMIM:242860
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-cas...	ORPHA:227982
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac...	OMIM:619795
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lymphadenopathy, Malar rash, Arthritis, Skin rash, Dis...	ORPHA:93552
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Felty Syndrome	Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Osteoly...	ORPHA:47612
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D...	OMIM:275350
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteolytic defects of the phalanges of the hand, Osteomyelitis	OMIM:613115
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Skin rash, Dysphagia, Recurrent cutaneous abscess formation, Joint hypermobility,...	OMIM:147060
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Dyskeratosis Congenita	Neoplasm of the pancreas, Anorectal anomaly, Tracheoesophageal fistula, Bone marrow hypocellulari...	ORPHA:1775
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Joint dislocation, Myositis, Arthritis, ...	ORPHA:81
Immunodeficiency 27B	Salmonella osteomyelitis, Generalized lymphadenopathy, Osteomyelitis	OMIM:615978
Chronic Recurrent Multifocal Osteomyelitis 3	Bone pain, Palmoplantar pustulosis, Osteomyelitis	OMIM:259680
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Focal Myositis	Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration	ORPHA:48918
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Chronic diarrhea, Abnormal platelet function, Sinusitis, Hemat...	ORPHA:906
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Increased circulating lactate dehydrogenase conce...	ORPHA:158061
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Fanconi-Like Syndrome	Multiple bilateral pneumothoraces, Recurrent lower respiratory tract infections, Osteomyelitis, P...	OMIM:227850
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Microsporidiosis	Intermittent diarrhea, Chronic diarrhea, Bronchitis, Sinusitis, Biliary tract abnormality, Myocar...	ORPHA:2552
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Sickle Cell Anemia	Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Unconjugated hyperbil...	ORPHA:232
Reticular Dysgenesis	Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor...	ORPHA:33355
Kimura Disease	Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy	ORPHA:482
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc...	ORPHA:2688
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Pleu...	ORPHA:3452
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat...	OMIM:300755
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Elevated circulating h...	ORPHA:540
Pyoderma Gangrenosum	Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i...	ORPHA:48104
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Coccidioidomycosis	Skin rash, Broad metatarsal, Granuloma, Pericarditis, Erythema nodosum, Osteolysis, Morbilliform ...	ORPHA:228123
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl...	ORPHA:2619
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen...	OMIM:616871
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Scedosporiosis	Unusual skin infection, Pneumonia, Abnormal jejunum morphology, Pleuritis, Bronchitis, Pleural em...	ORPHA:449280
17Q23.1Q23.2 Microdeletion Syndrome	Chronic otitis media, Clinodactyly of the 5th finger, Patellar hypoplasia, Gastroesophageal reflu...	ORPHA:261279
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif...	ORPHA:750
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Neutropenia, Anemia, Ileus, Lymphadenopathy, Arthritis, Chronic diarrhea, Decrea...	OMIM:304790
Brucellosis	Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Inc...	ORPHA:1304
Sweet Syndrome	Panniculitis, Acute myeloid leukemia, Anemia, Chronic lymphatic leukemia, Myositis, Sterile absce...	ORPHA:3243
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P...	OMIM:112250
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm...	ORPHA:2097
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Bloody diarrhea, Duodenitis, Blepharitis, Pustule, Erythroderma,...	OMIM:614328
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233710
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Short palpebral fissure, Congenital bilateral hip dislocation, Tibial bowing,...	ORPHA:453510
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ...	ORPHA:93323
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of...	OMIM:607078
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233690
Isolated Agammaglobulinemia	Clinodactyly of the 5th toe, Pneumonia, Anemia, Inflammatory abnormality of the eye, Diarrhea, Ar...	ORPHA:229717
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Immunodeficiency 116	Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections	OMIM:608957
Q Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr...	ORPHA:781
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Immune-Mediated Necrotizing Myopathy	Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Skin rash, Scapular winging, E...	ORPHA:206569
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis	ORPHA:2218
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE level, Lymph...	OMIM:602450
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Avascular necrosis, Multiple bony cystic lesions, Abnormal bone structure, A...	ORPHA:83451
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Telecanthus, Diarrhea, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia,...	ORPHA:2575
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Carious teeth, Keratitis, Enamel hyp...	OMIM:612843
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Recurre...	OMIM:619644
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Kid Syndrome	Delayed pubic bone ossification, Aplastic/hypoplastic lacrimal glands, Neoplasm of the tongue, Re...	ORPHA:477
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Myositis, Calf muscle hypertrophy, Elevated circulating creatine kinase concentr...	ORPHA:565899
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Ptosis, Downslanted palpebral fissures, Lymphang...	OMIM:176920
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:829
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr...	ORPHA:1952
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly,...	OMIM:619183
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Intestinal obstruction, Gastroesophageal reflux, Myositis, Arthritis, Skin rash, Sin...	ORPHA:183
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Neuropathy, Hereditary Sensory, Type Id	Distal lower limb amyotrophy, Osteomyelitis	OMIM:613708
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple...	OMIM:618495
Beta-Thalassemia	Reduced bone mineral density, Anemia, Hepatomegaly, Cholelithiasis, Abnormality of iron homeostas...	ORPHA:848
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Atelectasis, Rectal abscess, Discoid lupus rash, Gr...	OMIM:306400
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Alpha-Mannosidosis	Chronic otitis media, Narrow palate, Hepatomegaly, Craniofacial hyperostosis, Avascular necrosis,...	ORPHA:61
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Erdheim-Chester Disease	Abnormal metaphysis morphology, Xanthelasma, Abnormal pulmonary interstitial morphology, Anemia, ...	ORPHA:35687
Hepatoerythropoietic Porphyria	Osteopenia, Ectropion, Erythrodontia, Loss of eyelashes, Abnormal circulating enzyme concentratio...	ORPHA:95159
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Giant cell hepatitis, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepato...	OMIM:607765
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Gaucher Disease	Decreased HDL cholesterol concentration, Increased circulating antibody level, Joint stiffness, D...	ORPHA:355
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci...	ORPHA:289390
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De...	OMIM:617780
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Cholelithiasis, Recurrent tonsillitis, Atopic dermatitis, Vomiting, Increased circu...	ORPHA:171876
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Anoperineal fistula, Thrombo...	OMIM:301074
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:619423
Thymoma	Aplastic anemia, Myositis, Decreased circulating antibody level, Neoplasm of the lung, Rheumatoid...	ORPHA:99867
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Limitation of ...	OMIM:228000
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula...	OMIM:615122
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat...	OMIM:619632
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Clinodactyly of the 5th toe, Hypertriglyceridemia, Clinodactyly of the 5th ...	OMIM:618010
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating antibody level, Skin rash, Chilblains, Hematochezia, Splenomeg...	OMIM:615846
Listeriosis	Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Stiff neck, Jaundice, Splenic ...	ORPHA:533
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:615577
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentra...	OMIM:611762
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Ptosis, Pure red cell aplasia, Dysphagia, ...	ORPHA:589
Sézary Syndrome	Ectropion, Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:3162
Omenn Syndrome	Abnormal metaphysis morphology, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Chronic diarr...	ORPHA:39041
Congenital Erythropoietic Porphyria	Ectropion, Increased fecal coproporphyrin 1, Recurrent bacterial skin infections, Reticulocytosis...	ORPHA:79277
Wilson Disease	Cirrhosis, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegal...	ORPHA:905
Systemic Sclerosis	Gastroparesis, Bowel incontinence, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal phalang...	ORPHA:90291
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis, Recurrent bronchitis	OMIM:216950
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia	OMIM:615190
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Arthr...	OMIM:604416
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Delayed ossification of carpal bones, Decre...	OMIM:617425
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:600081
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Tularemia	Pneumonia, Anemia, Increased circulating antibody level, Mediastinal lymphadenopathy, Inflammator...	ORPHA:3392
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Joint subluxation,...	OMIM:130060
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ...	OMIM:612301
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Hypocholesterolemia, Blepharitis, Delayed skeletal matur...	OMIM:616834
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Chronic diarrhea, Increased circulating IgE level, Clubbing, Arthropathy,...	OMIM:618523
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal shoulder morphology, In...	ORPHA:85446
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb muscle weakness, Hammertoe, Foot osteomyelitis, Distal amyotrophy, Foot dorsifl...	OMIM:600882
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic...	OMIM:208900
Melioidosis	Lung abscess, Unusual skin infection, Pneumonia, Prostatitis, Liver abscess, Acute infectious pne...	ORPHA:31202
Bare Lymphocyte Syndrome, Type Ii	Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i...	OMIM:209920
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Patent ductus arteriosus	ORPHA:99811
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:620040
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Osteoporosis, Gout	OMIM:610947
Flotch Syndrome	Inflammatory abnormality of the eye, Abnormal eyelid morphology, Abnormal eyelash morphology, Spa...	ORPHA:2045
Immunodeficiency 32B	Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Monocytopenia, Eosinophilia, N...	OMIM:226990
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma...	OMIM:243150
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Ectropion, Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjunctivitis	OMIM:308800
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Neuropathic arthropathy, Gastroesophageal reflux, Distal amyotrophy, Foot dorsiflexor ...	ORPHA:36386
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony cortex	OMIM:619638
Kerion Celsi	Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the...	ORPHA:499
Benign Cephalic Histiocytosis	Histiocytosis, Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Congenital Atransferrinemia	Arthritis, Anemia, Abnormality of the pancreas	ORPHA:1195
Vitamin D-Dependent Rickets, Type 2A	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin...	OMIM:277440
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi...	OMIM:618204
Congenital Disorder Of Glycosylation, Type Iih	Finger clinodactyly, Clinodactyly of the 3rd toe, Bilateral coxa valga, Elevated circulating crea...	OMIM:611182
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Skeletal muscle atrophy, Osteomyelitis	OMIM:162400
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG le...	OMIM:620603
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia	ORPHA:217390
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:300554
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Cryptococcosis	Cirrhosis, Prostatitis, Mediastinal lymphadenopathy, Lymphoid leukemia, Pleural effusion, Limb mu...	ORPHA:1546
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased circulating antibody level...	OMIM:601495
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Giant cell hepatitis, Elevated circulating hepatic transaminase concentrati...	ORPHA:79303
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Cholelithiasis, Chronic active hepatitis, Diarrhea, Chronic mucocutaneo...	OMIM:240300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal intestine morphology, Generalized osteoporosis, Delayed skeletal maturation, Lymphopenia...	ORPHA:391487
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal eyela...	ORPHA:381
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, Hypersplenism, Jaundice, Hepatocellular carcinom...	ORPHA:231226
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog...	OMIM:619079
Genetic Recurrent Myoglobinuria	Hyperkalemia, Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Elevated circu...	ORPHA:99845
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, T lymphocytopenia, Sinusitis, Neutro...	ORPHA:572
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Osteomyelitis	OMIM:239840
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota...	ORPHA:98848
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones...	OMIM:105835
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Increased circulating antibody level, Delayed skeletal m...	ORPHA:77259
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Chronic diarrhea, Clubb...	ORPHA:3260
Neuropathy, Hereditary Sensory, Type Ie	Osteomyelitis	OMIM:614116
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C...	ORPHA:2137
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Arthropathy, Painless fractures due to injury, Constipation, Osteoarthritis, Septic art...	OMIM:608654
Down Syndrome	Sandal gap, Delayed skeletal maturation, Joint hypermobility, Narrow palate, Aganglionic megacolo...	ORPHA:870
Progressive Osseous Heteroplasia	Bone pain, Limitation of joint mobility, Ectopic ossification in muscle tissue, Osteoarthritis, B...	ORPHA:2762
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Diarrhea, Ent...	OMIM:307200
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L...	OMIM:617099
Netherton Syndrome	Recurrent respiratory infections, Hypereosinophilia, Increased circulating IgE level, Chronic rhi...	OMIM:256500
Lambert Syndrome	Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia	ORPHA:1296
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Increased skull ossification	ORPHA:85179
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	ORPHA:221139
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Slender long bone, ...	OMIM:613385
Mucolipidosis Type Iii	Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Large ilia...	ORPHA:577
C1Q Deficiency 2	Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Elevat...	OMIM:620321
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse eyelashes, Blepharitis, Pruritus, Eczematoid dermatitis	OMIM:618535
Phoar2-Enteropathy Syndrome	Hyperostosis, Seborrheic dermatitis, Knee pain, Clubbing, Secretory diarrhea, Acne, Hypoalbuminem...	OMIM:614441
Hypophosphatemic Rickets, X-Linked Dominant	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Enamel hypomineralizat...	OMIM:307800
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Gastroesophageal reflux, Mandibular prognathia, Osteoporosis, Recurrent as...	OMIM:619971
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Eosinophil...	ORPHA:486
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Dracunculiasis	Diarrhea, Arthritis, Skin rash, Limitation of joint mobility, Flexion contracture, Recurrent cuta...	ORPHA:231
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Triangular tibia, Joint hypermobility, Toe syndactyly, ...	OMIM:619218
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Conical primary incisor, Sparse eyelashes, Blepharitis, Sparse eyebrow, Pruritus	OMIM:602400
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Femoral bowing, Tibial bowing, Splenomegaly, Hypoph...	ORPHA:289157
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin...	OMIM:264700
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy, Conjunctivitis	OMIM:617772
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Arthritis, Seborrheic dermatitis, Cl...	OMIM:259100
Behçet Disease	Gastrointestinal hemorrhage, Pancreatitis, Recurrent aphthous stomatitis, Avascular necrosis, Lym...	ORPHA:117
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Abnormal metacarpophalangeal joint morphology, Synovitis, Hepatosplenomegaly, Ab...	ORPHA:85408
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis, Brachydactyly	ORPHA:1937
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis	OMIM:613779
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Biliary cirrhosis, Splenomega...	ORPHA:186
Avian Influenza	Pneumothorax, Elevated circulating hepatic transaminase concentration, Myelitis, Elevated circula...	ORPHA:454836
Idiopathic Camptocormia	Fatty replacement of skeletal muscle, Myelitis, Myositis, EMG: myopathic abnormalities, Elevated ...	ORPHA:1320
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Genu valgum, Arthralgia of the hip, Abnormality of the...	ORPHA:166002
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Arthritis, Splenomegaly, Infectious encepha...	ORPHA:42642
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Palpebral edema, Calcinosis, Elevated circulating C-reactive protein...	ORPHA:93672
Dyskeratosis Congenita, X-Linked	Cirrhosis, Anemia, Acute myeloid leukemia, Pterygium, Pancytopenia, Osteoporosis, Sparse eyelashe...	OMIM:305000
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r...	OMIM:607115
Congenital Syphilis	Periostitis, Tibial bowing, Prolonged neonatal jaundice, Myocarditis, Maculopapular exanthema, No...	ORPHA:499009
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:241530
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Diarrhea, Hepatitis,...	ORPHA:549
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Calvarial hyperostosis, Anemia of ina...	OMIM:612714
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Mccune-Albright Syndrome	Hepatocellular adenoma, Abnormal femur morphology, Pancreatitis, Abnormal facial skeleton morphol...	ORPHA:562
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Hepatospleno...	ORPHA:79330
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Delayed eruption of teeth, Short middle phalanx of the 5th finger, Abnormal e...	ORPHA:63442
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Th...	ORPHA:83313
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Diarrhea, B lymphocytopenia, Hypoproteinemia, Erythroderma...	OMIM:603554
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Progressive Pseudorheumatoid Dysplasia	Enlarged metacarpophalangeal joints, Enlarged interphalangeal joints, Arthropathy, Enlarged epiph...	OMIM:208230
Nocardiosis	Pneumothorax, Scleritis, Liver abscess, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymp...	ORPHA:31204
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
X-Linked Dominant Chondrodysplasia Punctata	Epiphyseal stippling, Anterior rib punctate calcifications, High palate, Abnormally ossified vert...	ORPHA:35173
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility, Abnormal pleura morphology, Lymphopenia, Eosinophilia	ORPHA:2582
Roifman Syndrome	Recurrent otitis media, Clinodactyly of the 5th finger, Lymphadenopathy, Broad femoral head, Decr...	ORPHA:353298
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin ras...	OMIM:603552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, C...	OMIM:615895
Epiphyseal Dysplasia, Multiple, 6	Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Arthralgia of...	OMIM:614135
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Patent ductus arteriosus, Accessory spleen, Portal hypertension, Decreased circulating Ig...	OMIM:620005
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Abnormal hip bone morphology, Epiphyseal stippling, Joint stiffness, ...	ORPHA:584
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Diarrhea, Elevated tot...	ORPHA:79456
Myositis	Myositis	OMIM:160750
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Aspiration pneumonia, Micrognat...	ORPHA:141152
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reacti...	ORPHA:247353
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Gastroesophageal reflux, Increased circulating IgE level, Atopic dermatitis, Osteoporosis, Eosino...	OMIM:620532
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Abnormality of the temporomandibular joint, Atelectasis, Gastroesophageal ref...	ORPHA:258
Developmental Dysplasia Of The Hip 2	Arthritis, Hip osteoarthritis, Coxa valga, Hip dysplasia	OMIM:615612
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating...	OMIM:617388
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, Jaund...	OMIM:619573
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level, Hepatomegaly	OMIM:606056
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Recur...	OMIM:618806
Complement Component 4B Deficiency	Recurrent otitis media, Chronic active hepatitis, Chronic diarrhea, Recurrent sinusitis, Recurren...	OMIM:614379
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Sparse lateral eyebrow, Carious teeth, Enamel hypoplasia, Recurrent respiratory infections, Hepat...	ORPHA:363523
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela...	OMIM:301000
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Crohn's disease, Chronic diarrhea, Recurrent vulvov...	ORPHA:331235
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections	OMIM:615561
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren...	OMIM:617952
Eec Syndrome	Entropion, Proximal placement of thumb, Inflammatory abnormality of the eye, Aplasia/Hypoplasia o...	ORPHA:1896
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia	ORPHA:100
Syndromic Diarrhea	Intractable diarrhea, Villous atrophy, Gastritis, Cirrhosis, Hepatomegaly, Panhypogammaglobulinem...	ORPHA:84064
Dysosteosclerosis	Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio...	ORPHA:1782
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Hepatic calcif...	OMIM:620376
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Avascular necrosis, Bone pain, Limitation of...	ORPHA:97332
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Rickets...	ORPHA:289176
Immunodeficiency 58	Chronic otitis media, Seborrheic dermatitis, Chronic diarrhea, Decreased specific antibody respon...	OMIM:618131
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Thyroiditis, Decreased...	ORPHA:83471
Lichen Planus Pemphigoides	Blepharitis, Pruritus, Conjunctivitis	ORPHA:254478
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Leishmaniasis	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm...	ORPHA:507
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ...	ORPHA:85414
Iga Pemphigus	Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula...	ORPHA:555905
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph...	OMIM:142669
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Wide a...	OMIM:610199
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Mucopolysaccharidosis, Type Ix	Recurrent otitis media, Acetabular erosions, Knee pain, Hyperextensibility at elbow, Periarticula...	OMIM:601492
Menkes Disease	Abnormal metaphysis morphology, Gastrointestinal hemorrhage, Tarsal synostosis, Chondrocalcinosis...	ORPHA:565
Desbuquois Dysplasia 1	Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy...	OMIM:251450
Chondrodysplasia Punctata 2, X-Linked Dominant	Epiphyseal stippling, Stippled calcification in carpal bones, Abnormal pelvic girdle bone morphol...	OMIM:302960
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture...	ORPHA:93320
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia	ORPHA:2268
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Inflammatory myopathy, Skin rash, Gastro...	ORPHA:221
Candidiasis, Familial, 8	Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis, Blepharitis, Macroglossia	OMIM:615527
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Cone-shaped epiphyses of the proximal phalanges of the hand, Delayed skeletal m...	OMIM:190350
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia, Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent upper respi...	OMIM:619446
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi...	OMIM:266265
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:300009
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Abnormal cortical bone morphology, Chole...	OMIM:614886
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat...	OMIM:615468
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis	OMIM:300918
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Distal lower limb muscle weakness, Osteomyelitis	OMIM:613640
Idiopathic Non-Lupus Full-House Nephropathy	Arthritis, Skin rash, Synovitis, Elevated circulating creatinine concentration, Serositis, Glomer...	ORPHA:567544
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,...	ORPHA:89936
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Keratoconjunctivit...	ORPHA:79078
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased...	OMIM:300291
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Abnormally ossified vertebrae, Short metacarpal, Bifid u...	ORPHA:1427
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Recurrent aspiration pneumonia, Dysphagia, Proximal muscle weakness i...	ORPHA:280633
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, D...	ORPHA:90363
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pneumonia, Dental malocclusion, Pancytopenia, Delayed eruption of te...	ORPHA:1855
Leukocyte Adhesion Deficiency, Type I	Elevated circulating C-reactive protein concentration, Periodontitis, Chronic diarrhea, Chronic m...	OMIM:116920
Hemochromatosis, Type 3	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Arthritis, Increased ...	OMIM:604250
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Immunodeficiency 110 With Lymphoproliferation	Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo...	OMIM:614868
Vernal Keratoconjunctivitis	Keratoconjunctivitis, Punctate keratitis, Blepharitis, Conjunctival hyperemia, Pruritus, Allergic...	ORPHA:70476
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis, Pruritus	ORPHA:280785
Rigid Spine Syndrome	Elbow flexion contracture, Hamstring contractures, Hip contracture, Skeletal muscle atrophy, Pneu...	ORPHA:97244
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis dissecans, Hip osteoarthritis, Mandibular prognathia, Accelerated skeletal matura...	OMIM:165800
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Clouston Syndrome	Sparse eyelashes, Blepharitis, Sparse eyebrow, Conjunctivitis	OMIM:129500
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Aspiration pneumonia, Angulated muscle fibers, Weakness of facial musculature, ...	OMIM:619477
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hepati...	ORPHA:292
Zika Virus Disease	Ankle swelling, Wrist swelling, Myelitis, Arthritis, Skin rash, Vomiting, Increased circulating I...	ORPHA:448237
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis, Conjun...	OMIM:120100
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone pain, Skin rash, Bone marrow hypocellularity, Splenomegaly, P...	ORPHA:391
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A...	OMIM:208250
Acrodermatitis Enteropathica	Cheilitis, Glossitis, Chronic diarrhea, Abnormal eyelid morphology, Furrowed tongue, Blepharitis,...	ORPHA:37
Reactive Arthritis	Recurrent aphthous stomatitis, Diarrhea, Arthritis, Joint stiffness, Pericarditis, Pustule, Infla...	ORPHA:29207
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating al...	OMIM:613812
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Abnormal bone ossification, Hepatomegaly, Generalized bone demineralization, ...	ORPHA:73230
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Tibial bowing, Bowing of the long bones, Shallow orbits,...	OMIM:613848
Occipital Horn Syndrome	Gastroparesis, Cholestasis, Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the ...	ORPHA:198
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Chronic diarrhea, Bronc...	OMIM:615207
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Clubbing of fingers, Seborrheic dermatitis, Knee pain, Periosteal thickening of long tubular bone...	OMIM:167100
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Hip osteoarthritis, Arthralgia of the hip, Wide distal femoral metaphysis, Dyspl...	ORPHA:99642
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E...	ORPHA:178320
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ...	OMIM:619991
Trichothiodystrophy	Ectropion, Retrognathia, Panhypogammaglobulinemia, Clubbing, Recurrent bronchopulmonary infection...	ORPHA:33364
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis	OMIM:616943
Familial Avascular Necrosis Of Femoral Head	Abnormal femoral neck/head morphology, Limited hip movement, Hip osteoarthritis, Flattened femora...	ORPHA:86820
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Roifman-Chitayat Syndrome	Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Pneumonia, Lacrimal duct stenosis, Con...	OMIM:613328
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Hypouricemia, Neutrope...	OMIM:613179
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Abnormal mast cell morphology, Pathologic ...	ORPHA:98850
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti...	OMIM:607850
Aicardi-Goutières Syndrome	Panniculitis, Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia...	ORPHA:51
Cap Polyposis	Colorectal polyposis, Diarrhea, Constipation, Hematochezia, Atrophic gastritis	ORPHA:160148
Bullous Impetigo	Septic arthritis, Abnormality of the lymphatic system, Pustule, Recurrent bacterial skin infections	ORPHA:36237
Peeling Skin Syndrome 1	Erythroderma, Eosinophilia, Increased circulating IgE level, Pruritus	OMIM:270300
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Thyroiditis, Neutropenia in presence of anti-neutropil anti...	ORPHA:228426
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating total IgM, Decrea...	OMIM:210900
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Cleft palate, Malar flattening, Premature osteoarthritis	OMIM:184840
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Camptodactyly, Bowel incontinence, Flexion contracture of finger, Gastrointestinal dysmotility, O...	ORPHA:88628
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Jaundice, Hepatomegaly, Anemia, Panhypogamma...	ORPHA:79124
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal hand metaphysis morphology, Joint stiffness, Abnormal metacarpophalangeal joint morpholo...	ORPHA:166011
Familial Reactive Perforating Collagenosis	Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem...	ORPHA:79147
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Arthritis, Increased circulating iron concentration, Splenomegaly, Incre...	OMIM:602390
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Abnormal femur morphology, Genu valgum, Irregular epiphyses, Bone pain, Joint ...	ORPHA:1822
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Elevated alkaline phosphatase of bone origin, Iron...	ORPHA:398063
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel...	ORPHA:911
Bloom Syndrome	Acute myeloid leukemia, Recurrent tonsillitis, Abnormal proportion of CD8-positive T cells, Decre...	ORPHA:125
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Harlequin Ichthyosis	Ectropion, Limitation of joint mobility, Foot polydactyly, Hand polydactyly, Erythroderma, Recurr...	ORPHA:457
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:607143
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis, Hypoproteinemia	OMIM:137280
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Downslanted palpebral fissures, Aspiration pneumonia	OMIM:609528
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Farber Disease	Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Nodular pattern on pul...	ORPHA:333
Microlissencephaly	Pneumonia	ORPHA:1083
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Increased circulating antibody level, Diarrhea, Acute pancre...	ORPHA:319218
Ifap Syndrome 2	Posterior blepharitis, Keratoconjunctivitis sicca, Keratitis, Angular cheilitis	OMIM:619016
Xeroderma Pigmentosum	Ectropion, Entropion, Craniofacial hyperostosis, Pterygium, Conjunctival telangiectasia, Blephari...	ORPHA:910
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Hepatic steatosis, Splenomegaly, Hepatomegaly	OMIM:613327
Netherton Syndrome	Emphysema, Skin rash, Decreased circulating antibody level, Increased circulating IgE level, Ecze...	ORPHA:634
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome...	OMIM:612840
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia	OMIM:605309
Multiple Epiphyseal Dysplasia Type 4	Stiff ankle, Short metacarpal, Joint stiffness, Accelerated skeletal maturation, Broad femoral ne...	ORPHA:93307
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Hypophosphatemia, Pathologic fracture, Osteolysis, Rickets, Abnormalit...	ORPHA:249
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Tarsal synostosis, Abnormal diaphysis morphology, Abnormality of ...	ORPHA:1657
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Camptoda...	ORPHA:575
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Iron deficiency anemia, Thrombocytosis, Macrocytic anemia	OMIM:212750
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis, Hepatic ...	OMIM:256810
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Increased circulating ferritin concentr...	ORPHA:465508
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Respirator...	OMIM:619445
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Idiopathic Achalasia	Gastroesophageal reflux, Bronchitis, Decreased circulating prealbumin concentration, Recurrent as...	ORPHA:930
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, 2-4 toe syndactyly, Syndact...	OMIM:150230
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Seborrheic dermatitis, Femoral bowing, Broad thumb, Bilateral radial aplasia...	OMIM:274000
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Steatorrhea, Anemia, Hypochromic microcytic anemia, Cholestasis, Diast...	ORPHA:440713
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Bilateral ptosis, Cervical C2/C3 vertebral fusion, Hammertoe, Squared iliac bones, Sh...	OMIM:618000
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Emphysema, Lymphadenopathy, Joint dislocation, Inflammatory abnormality of the eye,...	ORPHA:36412
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Absent eyelashes, Lacrimal duct atresia, 2-3 toe syndactyly, Sparse eyelashes, Blepharitis, Hypop...	OMIM:106260
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal irregularity, Short iliac bones, Pneumonia, Recurrent otitis media, Metaphyseal scler...	OMIM:607944
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Decreased proportion of class-switched memory B cells, Complete or near-complete ab...	OMIM:233600
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Chikungunya	Periostitis, Cervical lymphadenopathy, Lymphadenopathy, Maculopapular exanthema, Diarrhea, Arthri...	ORPHA:324625
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus	ORPHA:330064
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Distal amyotrophy	ORPHA:139578
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Cinca Syndrome	Reduced bone mineral density, Anemia, Hepatomegaly, Joint dislocation, Inflammatory abnormality o...	ORPHA:1451
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Malar f...	ORPHA:166100
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Chronic irritative conjunctivitis, 3-4 finger ...	ORPHA:69085
Specific Granule Deficiency 1	Recurrent otitis media, Recurrent pneumonia, Impaired neutrophil bactericidal activity, Impaired ...	OMIM:245480
Roifman Syndrome	Recurrent otitis media, Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Short meta...	OMIM:616651
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the elbow, Abnormal pel...	ORPHA:429
Nail-Patella Syndrome	Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t...	ORPHA:2614
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Seborrheic dermatitis, Biliary hyperplasia, Arachnodactyly, Contracture of the dist...	ORPHA:83617
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Ectropion, Increased circulating ferritin concentration, Elevated c...	ORPHA:101330
Rothmund-Thomson Syndrome	Aplastic anemia, Reduced bone mineral density, Skin rash, Neutropenia, Hypoplasia of the ulna, Me...	ORPHA:2909
Multiple Epiphyseal Dysplasia Type 5	Genu valgum, Arthralgia of the hip, Intervertebral disk degeneration, Abnormality of the epiphyse...	ORPHA:93311
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Arthritis, Skin rash, Chronic diarrhea, Incr...	OMIM:260920
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph...	ORPHA:2769
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop...	OMIM:242150
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Neonatal Inflammatory Skin And Bowel Disease	Anal fissure, Bloody diarrhea, Recurrent bacterial skin infections, Horizontal eyebrow, Blepharit...	ORPHA:294023
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia	ORPHA:935
Sydenham Chorea	Septic arthritis, Recurrent streptococcus pneumoniae infections, Endocarditis	ORPHA:306731
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decr...	ORPHA:508533
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, Diarrhea, B lymphocytop...	OMIM:150550
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Neutropenia, Lymphopenia	OMIM:616395
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Avascular necrosis, Delayed erupt...	ORPHA:137834
Pityriasis Rubra Pilaris	Erythroderma, Pustule, Pruritus, Eczematoid dermatitis	ORPHA:2897
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Kawasaki Disease	Cheilitis, Skin rash, Pericarditis, Cholecystitis, Myocarditis, Jaundice, Conjunctival hyperemia,...	ORPHA:2331
Wilson Disease	Portal fibrosis, Acute hepatic failure, Dysphagia, Splenomegaly, High nonceruloplasmin-bound seru...	OMIM:277900
Diastrophic Dysplasia	Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility	ORPHA:628
Dysspondyloenchondromatosis	Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Joint dislocation,...	ORPHA:85198
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis, Acne, Hypercholester...	ORPHA:77296
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Multiple joint dislocation, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, G...	ORPHA:93360
Atopic Keratoconjunctivitis	Loss of eyelashes, Abnormal eyelid morphology, Blepharitis, Chemosis, Conjunctival hyperemia, Ker...	ORPHA:163934
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emph...	OMIM:613490
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia, Diarrhea,...	ORPHA:199299
Slc35A2-Cdg	Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circulating thyrog...	ORPHA:356961
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Oligodactyly, Delayed skeletal maturation, Aganglionic megacolon, Abnormal pelvis bone...	ORPHA:2273
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop...	OMIM:614856
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma,...	ORPHA:60
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Highly arched eyebrow, Oligodactyly...	ORPHA:199
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification	ORPHA:163649
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Wide anterior fontanel, Wormian bones, Short long bone, High palat...	OMIM:249420
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ...	OMIM:615688
Oculodentodigital Dysplasia	Clinodactyly, Taurodontia, Cranial hyperostosis, Carious teeth, Cleft palate, Preaxial hand polyd...	ORPHA:2710
Common Variable Immunodeficiency	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ...	ORPHA:1572
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Clubbing, Splenomegaly, Enlarged lacrimal glands, Pancytope...	OMIM:181000
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Neutropenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis	OMIM:300299
Tetrasomy 9P	Biliary atresia, Pericarditis, Bifid uvula, Glue ear, Jaundice, Joint dislocation, Downslanted pa...	ORPHA:3310
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti...	OMIM:152700
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
Monosomy 22	Retrognathia, Hypochromic microcytic anemia, Clinodactyly of the 5th finger, Finger syndactyly, S...	ORPHA:96123
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Thrombocytosis, Decreased circulating IgG level, Hepatic fibrosis, Decreased circul...	OMIM:212065
Viss Syndrome	Rocker bottom foot, Ectropion, Retrognathia, Pulmonary artery aneurysm, Recurrent joint dislocati...	OMIM:619472
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Protruding tongue, Joint stiffness, Coxa valga, Splenomegal...	OMIM:230600
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Elevated circulating hepatic transaminase concentration, Intrahepatic cho...	OMIM:614921
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Delayed skeletal maturation, Bifid uvula, Symphalangism affecting the...	ORPHA:2658
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:613404
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	OMIM:616414
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a...	ORPHA:90003
Overlap Myositis	Limb pain, Abnormal circulating lipid concentration, Proximal muscle weakness in upper limbs, Dis...	ORPHA:206572
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Hypoalbuminemia	OMIM:227090
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a...	OMIM:612260
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, S...	OMIM:618963
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin...	ORPHA:70578
Localized Scleroderma	Abnormal facial skeleton morphology, Sclerosis of finger phalanx, Gastroesophageal reflux, Arthri...	ORPHA:90289
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Decreased circulating ...	OMIM:226300
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Tibial Hemimelia	Absent tibia	OMIM:275220
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Recurrent lower respiratory tract infections	OMIM:136630
Insensitivity To Pain, Congenital, With Anhidrosis	Neuropathic arthropathy, Keratitis, Osteomyelitis	OMIM:256800
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Abnormality of the elbow, Wide anterior fontanel, High palate, Limitation of...	ORPHA:3098
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Episodic vomiting, Pancytopenia, Elevated c...	OMIM:616050
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Osteoarthritis, Elevated transferrin saturation, Increased circu...	OMIM:606069
Glycogen Storage Disease Vii	Increased muscle glycogen content, Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating ...	OMIM:232800
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Arthritis, Carious teeth, Dysphagia, Flexion contracture, Osteolysis, Pu...	ORPHA:220393
Dent Disease	Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Enl...	ORPHA:1652
Ichthyosis, Hystrix-Like, With Deafness	Absent eyelashes, Punctate keratitis, Sparse eyelashes, Sparse eyebrow, Erythroderma	OMIM:602540
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	ORPHA:420741
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di...	ORPHA:166016
Shigellosis	Cholestasis, Abnormal blood ion concentration, Paralytic ileus, Myocarditis, Splenic abscess, Nau...	ORPHA:810
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration...	OMIM:194380
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of the maxilla...	ORPHA:90653
Immunodeficiency 40	Chronic oral candidiasis, Intermittent diarrhea, Recurrent otitis media, Rectal fistula, Macroves...	OMIM:616433
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis, Intractable diarrhea, Crypt hyperplasia, Villous atrophy	OMIM:613217
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Generalized bone demineralization, Delayed epiphyseal ossification, Flared me...	ORPHA:93352
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis	OMIM:118600
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Genu valgum, Short metatarsal, Upper limb undergrowth, Short metacarpal,...	OMIM:271650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transamina...	OMIM:603553
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis	OMIM:604864
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormality of the orbital region, Pterygium, Osteolysis involving...	ORPHA:371428
Lamellar Ichthyosis	Chronic otitis media, Ectropion, Aplasia/Hypoplasia of the eyebrow, Erythroderma, Recurrent respi...	ORPHA:313
Osteogenesis Imperfecta	Intestinal obstruction, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bon...	ORPHA:666
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis	ORPHA:94089
Biotinidase Deficiency	Decreased circulating biotinidase concentration, Hepatomegaly, Diarrhea, Seborrheic dermatitis, S...	OMIM:253260
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metacarpal heads, Osteoarthritis, Hip osteoarthritis, Flattened metatarsal heads	OMIM:271600
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar...	ORPHA:1106
Alpha-Mannosidosis, Adult Form	Osteopenia, Pancytopenia, Hepatosplenomegaly, Pneumonia, Macroglossia, Recurrent gastroenteritis	ORPHA:309288
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Rectovaginal fistula, Telecanthus, Recurrent respiratory infections, Spl...	OMIM:129900
Pyomyositis	Myositis, Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Congenital Ichthyosiform Erythroderma	Erythroderma, Ectropion, Keratitis, Pruritus	ORPHA:79394
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Increased hematocrit	ORPHA:284227
Reynolds Syndrome	Cirrhosis, Jaundice, Keratoconjunctivitis sicca, Hepatomegaly, Gastroesophageal reflux, Arthritis...	ORPHA:779
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Ectropion, Flexion contracture	OMIM:242300
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Hypoalbuminemia	ORPHA:1954
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Immunodeficiency 13	Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, T lymph...	OMIM:615518
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Delayed eruption of teeth, Seborrheic dermatitis, Aspiration pneumonia, Lower limb ...	OMIM:301072
Rat-Bite Fever	Morbilliform rash, Myocarditis, Pancreatitis, Anemia, Diarrhea, Arthritis, Skin rash, Erythema no...	ORPHA:31205
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang...	OMIM:161700
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Bone pain, Decreased eos...	ORPHA:2686
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Retrognathia, Chronic diarrhea, Decreased circulating IgG level, Flexion ...	OMIM:601675
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology	ORPHA:2206
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ...	ORPHA:56305
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Wide anterior fontanel, Flexion contracture	OMIM:609180
Aspartylglucosaminuria	Chronic otitis media, Hepatomegaly, Abnormal cortical bone morphology, Arthritis, Mandibular prog...	ORPHA:93
Psoriasis-Related Juvenile Idiopathic Arthritis	Polyarticular arthritis, Skin rash, Generalized morning stiffness, Anterior uveitis, Psoriasiform...	ORPHA:85436
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Anal stenosis, Split hand, Ectrodactyly, Sparse eyelashes, Blepharitis, ...	OMIM:604292
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow...	ORPHA:3206
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Recurrent aphthous stomatitis,...	ORPHA:343
Camurati-Engelmann Disease	Increased bone mineral density, Cortical thickening of long bone diaphyses, Sclerosis of skull ba...	OMIM:131300
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Hereditary Sensory And Autonomic Neuropathy Type 4	Neuropathic arthropathy, Abnormality of lower limb joint, Anemia, Abnormal hip bone morphology, A...	ORPHA:642
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper...	ORPHA:2780
Psoriasis 14, Pustular	Cholangitis, Elevated circulating C-reactive protein concentration, Polyarticular arthritis, Furr...	OMIM:614204
Prolidase Deficiency	Reduced bone mineral density, Hepatomegaly, Abnormal hip bone morphology, Genu valgum, Recurrent ...	ORPHA:742
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Cherubism	Bone cyst	ORPHA:184
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Anorectal anomaly, Seborrheic dermatitis, Bowe...	ORPHA:567
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Osteoarthritis Susceptibility 2	Heberden's node, Osteoarthritis	OMIM:140600
Laron Syndrome	Delayed eruption of teeth, Delayed skeletal maturation, Micrognathia, Short toe, Osteoarthritis, ...	ORPHA:633
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas, Patent ductus arteriosus	OMIM:618162
Ichthyosis With Confetti	Erythroderma, Ectropion, Clubbing, Pruritus	OMIM:609165
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tra...	ORPHA:91139
Trichohepatoenteric Syndrome 2	Cirrhosis, Villous atrophy, Hepatomegaly, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic he...	OMIM:614602
Bathing Suit Ichthyosis	Erythroderma, Ectropion, Multiple joint contractures	ORPHA:100976
Ichthyosis Prematurity Syndrome	Erythroderma, Pruritus, Allergic rhinitis	OMIM:608649
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Anal fissure, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pa...	OMIM:618935
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis	ORPHA:93283
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures	OMIM:239000
Juvenile Xanthogranuloma	Blepharitis, Iritis, Myeloproliferative disorder, Uveitis	ORPHA:158000
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Ethylene Glycol Poisoning	Hyperkalemia, Pulmonary edema, Gastritis, Hypocalcemia, Facial palsy, Vomiting, Nausea	ORPHA:31826
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hyperornithinemia, Episodic vomiting, Acute hepatitis, Hy...	OMIM:238970
Rift Valley Fever	Hematemesis, Jaundice, Anemia, Melena, Elevated circulating hepatic transaminase concentration, I...	ORPHA:319251
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Upper limb muscle weakness, Aspiration pneumo...	ORPHA:90117
Letterer-Siwe Disease	Jaundice, Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutro...	OMIM:246400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Yao Syndrome	Pleuritis, Diarrhea, Arthritis, Skin rash, Xerostomia, Pericarditis, Inflammatory abnormality of ...	OMIM:617321
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Shor...	OMIM:620306
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Emphysema, Chronic diarrhea, Abnormally low T cell re...	OMIM:242700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Increased circulating IgE level, Eosinophilic infiltration of t...	OMIM:615508
Peripheral Dysostosis	Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral...	OMIM:215150
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Osteoarthritis of the elbow, Pleuritis, Knee osteoarthritis, Bone cyst, Polyartic...	ORPHA:2848
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleuritis, Diarrhea, Arthrit...	OMIM:249100
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, High palate, Eczematoid dermatitis, P...	OMIM:170100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Hyperextensibility of the finger joints, Mandibular prognathia, Osteoporosis...	OMIM:309583
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, High, narrow palate, Proximal muscle weakness in upper li...	ORPHA:98897
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Distal lower limb muscle weakness, Scapular winging, Bronchiectasis, Tendon rupture, Fiber type g...	OMIM:620080
Complement Component 5 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:609536
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor...	OMIM:620076
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Joint swelling, Chond...	ORPHA:1416
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Panniculitis, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni...	OMIM:612541
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transa...	OMIM:214950
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Deformed forearm ...	ORPHA:321
Glycogen Storage Disease Ib	Xanthelasma, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration,...	OMIM:232220
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Sparse or absent eyelashe...	ORPHA:221016
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice	ORPHA:464370
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Conjunctival hamartoma	ORPHA:312
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Brachydactyly	OMIM:619248
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle fibers, Joint hypermobility...	ORPHA:98905
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis, Pruritus, Pterygium	ORPHA:525
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis	OMIM:259730
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Alg12-Cdg	Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Proximal pla...	ORPHA:79324
Dubowitz Syndrome	Aplastic anemia, Decreased circulating IgG level, Acute lymphoblastic leukemia, Decreased circula...	OMIM:223370
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Atelis Syndrome 1	Anemia, High palate, Eczematoid dermatitis, Carious teeth, Downslanted palpebral fissures, Leukop...	OMIM:620184
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal dental enamel morphology, Skin rash, Recurrent respiratory infections, Hepati...	ORPHA:1334
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B...	OMIM:612444
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, F...	OMIM:602111
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Gastroesophageal reflux, Aplasia/H...	ORPHA:354
Autoimmune Polyendocrine Syndrome, Type Ii	Steatorrhea, Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunct...	OMIM:269200
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Vexas Syndrome	Nasal chondritis, Arteritis, Macrocytic anemia, Elevated circulating C-reactive protein concentra...	OMIM:301054
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability i...	ORPHA:397744
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis...	ORPHA:51636
Alpha-Mannosidosis, Infantile Form	Highly arched eyebrow, Joint stiffness, Joint hypermobility, Craniosynostosis, Myopathy, Osteolys...	ORPHA:309282
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Hyperplasia of the maxilla, Telecanthus, Slender long bone, Dysharmonic ...	OMIM:612731
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Lymphopenia, Osteoporosis,...	OMIM:127550
Takayasu Arteritis	Gastrointestinal infarctions, Anemia, Inflammatory abnormality of the eye, Arthritis, Increased i...	ORPHA:3287
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Ehlers-Danlos Syndrome, Hypermobility Type	Joint hypermobility, Osteoarthritis, Joint dislocation	OMIM:130020
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis, Pleuritis	OMIM:609939
Postinfectious Vasculitis	Gastrointestinal inflammation, Increased circulating antibody level, Elevated circulating C-react...	ORPHA:48435
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis...	OMIM:267700
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Ehlers-Danlos Syndrome, Classic Type, 1	Recurrent lower respiratory tract infections, Joint dislocation, Bowel diverticulosis, Hyperexten...	OMIM:130000
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 6 concen...	OMIM:620514
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase...	OMIM:613658
Familial Cold Urticaria	Arthritis, Pruritus, Conjunctivitis	ORPHA:47045
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Clubbing of...	OMIM:191900
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Arthritis, Arthropathy, Morbus Scheuermann, Joint stiffnes...	OMIM:108300
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Thrombocytosis, Elevated circulating C-reactiv...	OMIM:614034
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones	OMIM:127000
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Sparse or absent eyelashes, Short metacarpal, Delayed skeletal maturation, Genu ...	ORPHA:221008
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, S...	ORPHA:169090
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Gastrointestinal atresia, Intestinal atresia, Rectal abscess, Bloody...	ORPHA:436252
Lesch-Nyhan Syndrome	Hyperuricemia, Anemia, Gout	ORPHA:510
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl...	ORPHA:87503
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Gastroesophageal reflux, Chronic rhinitis, Recurrent pneumonia, Recurrent...	OMIM:615482
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Recurrent pharyngitis, Hallux valgus, Camptodactyly, Chron...	ORPHA:168569
Relapsing Polychondritis	Myocarditis, Atelectasis, Recurrent aphthous stomatitis, Anteriorly placed anus, Inflammatory abn...	ORPHA:728
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Palpebral edema, Elevated circulating hepatic transaminase concentration, Joint hypermobility, He...	OMIM:619475
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Chronic neutropenia, Hyperlipidemia, H...	ORPHA:79259
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal pulmonary interstitial morphology, Diarrhea, ...	ORPHA:99745
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Leukonychia Totalis	Blepharitis, Abnormal eyelash morphology	ORPHA:2387
Paget Disease Of Bone 6	Bone pain, Osteoarthritis, Left ventricular hypertrophy, Elevated circulating alkaline phosphatas...	OMIM:616833
Bone Marrow Failure Syndrome 3	Aplastic anemia, Reduced bone mineral density, Hyperechogenic pancreas, Bone marrow hypocellulari...	OMIM:617052
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Gout, Elevated circulating creatinine concentration, Neutropenia	OMIM:617056
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal shoulder morphology, Abnormality of the wrist, Hip osteoarthritis, Abnormal femoral neck...	ORPHA:85438
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Uveitis, Ab...	ORPHA:85410
Monosomy 18Q	Decreased circulating IgA level, Patent ductus arteriosus	ORPHA:1600
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ...	OMIM:618213
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Splenic ...	ORPHA:400
Mirage Syndrome	Rocker bottom foot, Hyperkalemia, Radial club hand, Anemia, Gastroesophageal reflux, Chronic diar...	OMIM:617053
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level	ORPHA:723
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Distal amyotrophy, Decreased circulating apolipoprotein B concentration, Hypo...	OMIM:256840
Microscopic Polyangiitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Arthritis, Ski...	ORPHA:727
Mulibrey Nanism	Hepatomegaly, Recurrent lower respiratory tract infections, Absent frontal sinuses, Hypoplastic f...	OMIM:253250
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Chronic Thromboembolic Pulmonary Hypertension	Elevated circulating C-reactive protein concentration, Myeloproliferative disorder, Inflammation ...	ORPHA:70591
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones	OMIM:620558
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Porphyria, Congenital Erythropoietic	Osteopenia, Erythrodontia, Jaundice, Loss of eyelashes, Hepatomegaly, Cholelithiasis, Increased f...	OMIM:263700
Dermatitis, Atopic	Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent skin infections, Al...	OMIM:603165
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal pulmonary interstitial morphology, Gastroesop...	ORPHA:732
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis, Avascular necrosis	ORPHA:1345
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fulminant hepati...	OMIM:618549
Severe Hemophilia A	Gastrointestinal hemorrhage, Anemia, Intramuscular hematoma, Limitation of joint mobility, Synovi...	ORPHA:169802
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Anemia, Decreased circulating copper concentration	OMIM:121270
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, High palate, Type 1 fibers relatively smaller than type 2 fibers...	ORPHA:596
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low...	ORPHA:314795
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Pleuritis, D...	ORPHA:342
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Patent ductus arteriosus	ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Cho...	OMIM:614576
Ichthyosis With Erythrokeratoderma	Erythroderma, Pruritus	OMIM:620507
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level...	ORPHA:293978
Glycogen Storage Disease Ia	Intermittent diarrhea, Xanthelasma, Hepatomegaly, Pancreatitis, Elevated circulating hepatic tran...	OMIM:232200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F...	OMIM:616300
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Abnormal pancreas morphology, Cholangitis, Increased circul...	ORPHA:449432
Vertical Talus, Congenital	Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity	OMIM:192950
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sk...	ORPHA:99826
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap...	OMIM:224300
Alstrom Syndrome	Polydactyly, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevate...	OMIM:203800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Knee pain, Malar flattening, Avascular necrosis of the capital femoral epiphysis, Cerv...	OMIM:184100
Spondylosis, Cervical	Osteoarthritis, Spina bifida occulta	OMIM:184300
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Acanthocytosis	OMIM:604777
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea, Skin rash, Osteoporosis, Increased serum zinc	OMIM:601979
Mucopolysaccharidosis, Type Vi	Hypoplastic iliac wing, Flared iliac wing, Joint stiffness, Splenomegaly, Metaphyseal irregularit...	OMIM:253200
American Trypanosomiasis	Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Diarrhea, Skin rash, Splenomeg...	ORPHA:3386
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Rheumatic Fever	Myocarditis, Recurrent pharyngitis, Arthritis, Sinusitis, Pericarditis, Constipation, Abnormal pl...	ORPHA:3099
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Splenomegaly, Anterior uveitis, Infectious encephalitis	ORPHA:83317
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Acut...	ORPHA:36238
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Shallow orbits, ...	OMIM:277600
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Bone marrow hypocellularity, Increased ci...	OMIM:617303
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Diarrhea, Optic neuritis, Skin rash, Pleural effusion, P...	ORPHA:509
Pemphigus Foliaceus	Pustule, Erythroderma, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pruritus	ORPHA:79481
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia	OMIM:620133
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Papillon-Lefèvre Syndrome	Liver abscess, Severe periodontitis, Periodontitis, Arachnodactyly, Pustule, Chronic furunculosis...	ORPHA:678
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:79332
Pycnodysostosis	Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal...	ORPHA:763
Chronic Granulomatous Disease	Liver abscess, Hepatomegaly, Mediastinal lymphadenopathy, Inflammatory abnormality of the eye, Tr...	ORPHA:379
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma, Ectropion	OMIM:615023
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ...	OMIM:164900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Hepatomegaly, Camptodactyly of finger, Hyperammonemia, Flexion contracture, Infecti...	ORPHA:1194
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Anemia, Recurrent lower respiratory tract infections, Delayed eruption of teeth, B ...	ORPHA:508542
Specific Granule Deficiency 2	Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media	OMIM:617475
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Polyarticular arthritis, Xerostomia,...	ORPHA:90340
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Re...	ORPHA:60033
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Ciliary Dyskinesia, Primary, 14	Chronic sinusitis, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infec...	OMIM:613807
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Hepatomegaly	OMIM:248500
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Clubbing, Multiple pulmonary cysts, Eczemat...	ORPHA:79128
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Hypoplastic iliac wing, Delayed skeletal maturation, Narrow palate, Camptodactyly, ...	OMIM:235510
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N...	ORPHA:238459
Say-Barber-Miller Syndrome	Highly arched eyebrow, Transient hypogammaglobulinemia of infancy, Lower limb hypertonia, Erythem...	ORPHA:3132
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Decre...	OMIM:613070
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Delayed eruption of teeth, Seborrheic dermat...	ORPHA:369950
Lyme Disease	Joint swelling, Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Chronic rhinitis...	OMIM:244400
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Acute Generalized Exanthematous Pustulosis	Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis,...	ORPHA:293173
Werner Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis	ORPHA:902
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hyponatremia, Hepatitis	ORPHA:199296
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Hepatomegaly...	ORPHA:667
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co...	ORPHA:54251
Bronchogenic Cyst	Bronchogenic cyst, Abnormal stomach morphology, Abnormality of the diaphragm, Atelectasis, Abnorm...	ORPHA:2357
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Glossoptosis, Arachnodactyly, Bifid uvula, Jo...	ORPHA:828
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Lymphadenopathy, Delayed eruption of teeth, Finger syndactyly,...	ORPHA:2136
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Recurrent aspiration pneumonia, Dysphagia, Abnormal circulating enzym...	ORPHA:2590
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count	OMIM:259720
Lassa Fever	Increased circulating IgM level, Jaundice	ORPHA:99824
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea...	ORPHA:79329
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Highly arched eyebrow, Dislocated r...	OMIM:122470
Omodysplasia 1	Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit...	OMIM:258315
Digeorge Syndrome	Seborrheic dermatitis, Recurrent sinusitis, Bifid uvula, Splenomegaly, Abnormal thymus morphology...	OMIM:188400
Macs Syndrome	Palpebral edema, Recurrent aphthous stomatitis, High palate, Osteoporosis, Bronchiectasis, Downsl...	OMIM:613075
Apert Syndrome	Chronic otitis media, Limited elbow movement, Shallow orbits, Broad thumb, Bifid uvula, Syndactyl...	OMIM:101200
Crouzon Syndrome	Narrow palate, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Ptosis, Conjunctivitis	ORPHA:207
Epidermodysplasia Verruciformis	Seborrheic dermatitis, Pustule, Recurrent skin infections	ORPHA:302
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma, Ectropion	OMIM:612281
Spondyloocular Syndrome	Osteopenia, Femur fracture, Arachnodactyly, Long fingers, Overlapping toe, Long toe, Thin bony co...	OMIM:605822
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cirrhosis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Seborrheic derm...	OMIM:300868
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Elevat...	OMIM:256040
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis	OMIM:300991
Ciliary Dyskinesia, Primary, 46	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:619436
Nijmegen Breakage Syndrome	Dysgammaglobulinemia, Rhabdomyosarcoma, Sandal gap, T lymphocytopenia, Sinusitis, Recurrent pneum...	OMIM:251260
Lujo Hemorrhagic Fever	Myocarditis, Stiff neck, Elevated circulating hepatic transaminase concentration, Atelectasis, El...	ORPHA:319213
Necrobiosis Lipoidica	Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Ciliary Dyskinesia, Primary, 23	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:615451
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Elevated circulating ribitol concentration, Conjunctivitis, ...	ORPHA:488618
Blau Syndrome	Iritis, Flexion contracture of toe, Arthritis, Tendonitis, Synovitis, Eczematoid dermatitis, Camp...	OMIM:186580
Hennekam-Beemer Syndrome	Clinodactyly of the 5th finger, Delayed cranial suture closure, High palate, Mastocytosis, Vomiti...	ORPHA:2135
Plague	Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras...	ORPHA:707
Cowden Syndrome 1	Decreased circulating antibody level, Lymphopenia	OMIM:158350
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
Incontinentia Pigmenti	Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morpho...	ORPHA:464
Mucopolysaccharidosis Type 3	Chronic otitis media, Intermittent diarrhea, Reduced bone mineral density, Joint stiffness, Dysph...	ORPHA:581
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Infection-Related Hemolytic Uremic Syndrome	Intussusception, Myocarditis, Increased circulating interleukin 6 concentration, Hypocalcemia, Pl...	ORPHA:544482
Moderate Hemophilia A	Gastrointestinal hemorrhage, Intramuscular hematoma, Arthropathy, Limitation of joint mobility, S...	ORPHA:169805
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Degcags Syndrome	Retrognathia, Abnormal spleen morphology, Cholestasis, Delayed skeletal maturation, Abnormal eyeb...	OMIM:619488
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreas...	ORPHA:77293
Crouzon Syndrome	Lambdoidal craniosynostosis, Mandibular prognathia, High palate, Shallow orbits, Coronal craniosy...	OMIM:123500
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615504
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Highly arched eyebrow, Prominent fingertip pads, Glossoptosi...	OMIM:602535
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero...	OMIM:619727
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Clubbing, Ch...	ORPHA:244
Acute Disseminated Encephalomyelitis	Myelitis, Herpes simplex encephalitis, Optic neuritis, Viral hepatitis, Vomiting, Nausea	ORPHA:83597
Igg4-Related Kidney Disease	Decreased liver function, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level,...	ORPHA:449395
Meige Disease	Pleural effusion, Recurrent bacterial skin infections, Lymph node hypoplasia, Absence of lymph no...	ORPHA:90186
Dowling-Degos Disease	Arthritis, Anal margin squamous cell carcinoma, Pruritus, Acne inversa	ORPHA:79145
Adiposis Dolorosa	Diarrhea, Arthritis, Constipation, Recurrent skin infections, Xerostomia	ORPHA:36397
Giant Cell Arteritis	Gastrointestinal infarctions, Mediastinal lymphadenopathy, Recurrent pharyngitis, Glossitis, Arth...	ORPHA:397
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Alveolar Echinococcosis	Jaundice, Anemia, Cholangitis, Increased circulating antibody level, Liver abscess, Abnormal sple...	ORPHA:284
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Joint stiffness, Hypophosphatemia, Joint hypermobility, Abnormal...	ORPHA:534
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Seborrheic dermatitis, Hyperleucinemia, Propionyl-...	OMIM:210210
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Elevated circulating alkaline phosphatase concent...	ORPHA:247691
Familial Tumoral Calcinosis	Hepatomegaly, Hyperostosis, Bone pain, Skin rash, Calcification of muscles, Splenomegaly	ORPHA:53715
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Hyperammonemia, Dysphagia, Bronchiectasis, Neutropenia	OMIM:618253
Catastrophic Antiphospholipid Syndrome	Myocarditis, Gastrointestinal infarctions, Abnormal circulating cytokine concentration, Avascular...	ORPHA:464343
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess, Recurrent tonsillitis, Gastroparesis	OMIM:619223
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Abnormal conjunct...	ORPHA:797
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri...	ORPHA:96334
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Crigler-Najjar Syndrome	Abnormality of the liver, Jaundice, Infectious encephalitis	ORPHA:205
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Ectropion, Recurrent otitis media, Synophrys, Long palpebral fissure, Downslanted palpebral fissu...	OMIM:602562
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Elevated circulating creatinine concentration, ...	ORPHA:79126
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy...	ORPHA:26793
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus, Elevated circulating C-reac...	ORPHA:79099
Cleft Velum	Recurrent otitis media, Oral-pharyngeal dysphagia, Cleft soft palate, Aspiration pneumonia, Hypop...	ORPHA:99772
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Telecanthus, High palate, Aspiration pneumonia, Prominent metopic ridge, Sparse late...	ORPHA:314655
Marshall Syndrome	Genu valgum, High palate, Hypoplastic frontal sinuses, Sparse eyelashes, Hypoplasia of the maxill...	ORPHA:560
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormality of the orbital region, Sinusitis, Increased circulating IgG4 level, ...	ORPHA:449563
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Ciliary Dyskinesia, Primary, 3	Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis	OMIM:608644
Poems Syndrome	Sclerosis of skull base, Sclerosis of foot bone, Sclerosis of hand bone	ORPHA:2905
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Sclerosis of skull base, Osteolysis, Inc...	OMIM:602080
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Wide anterior fontanel, Ectopic anus, Absent eyelashes, Abnormal dental enamel...	ORPHA:85199
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Recurrent bacterial infections	OMIM:603585
Interstitial Cystitis	Urinary bladder inflammation, Abnormality of tumor necrosis factor secretion, Elevated circulatin...	ORPHA:37202
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Recurrent otitis media, Hepatomegaly, Mediastinal lym...	OMIM:620233
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture	OMIM:259900
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f...	ORPHA:90652
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Cleft soft palate, Bilateral coxa valga, High palate, S...	OMIM:615582
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Arthritis, Gout, Increased phosphoribosylpyrophosphate synthetase level, Recurrent...	ORPHA:411543
Aortic Aneurysm, Familial Thoracic 12	Arthritis, High palate, Spontaneous pneumothorax	OMIM:619825
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Telecanthus, Spina bifida occulta, Delayed skeletal maturation, Sternoc...	ORPHA:488434
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Calcinosis, Hypocalcemic seizures, Short metatarsal, Delayed eruption of te...	ORPHA:79444
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Increased circulating IgA level, Biliary cirrhosis, Decreased ci...	ORPHA:2298
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615505
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia, Nephritis, Gout	OMIM:162000
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Abnormal natural kil...	OMIM:615966
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Vici Syndrome	Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4...	OMIM:242840
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Abse...	OMIM:603467
Hereditary Xanthinuria	Aldehyde oxidase deficiency, Hypouricemia, Arthropathy, Rheumatoid arthritis, Reduced xanthine de...	ORPHA:3467
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I...	ORPHA:542323
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri...	OMIM:106300
Raine Syndrome	Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita	OMIM:259775
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Limitation of joint mobility, Co...	OMIM:313400
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Hepatomegaly, Limb hypertonia, Mandibular prognathia, Enamel hyp...	ORPHA:90322
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:415
Ciliary Dyskinesia, Primary, 11	Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ...	OMIM:612649
Chops Syndrome	High, narrow palate, Cervical C2/C3 vertebral fusion, Gastroparesis, Tracheomalacia, Gastroesopha...	OMIM:616368
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Abnormal platelet function, Short metacarpal, Short 4th metacarpal,...	ORPHA:79443
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Kikuchi-Fujimoto Disease	Palpebral edema, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin ras...	ORPHA:50918
Desmosterolosis	Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand	OMIM:602398
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Meningococcal Meningitis	Stiff neck, Elevated circulating C-reactive protein concentration, Projectile vomiting, Skin rash...	ORPHA:33475
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Mucopolysaccharidosis Type 2, Severe Form	Diaphyseal undertubulation, Abnormal circulating enzyme concentration or activity, Chronic diarrh...	ORPHA:217085
Cystic Fibrosis	Osteopenia, Pneumothorax, Steatorrhea, Rectal prolapse, Elevated circulating hepatic transaminase...	ORPHA:586
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Clubbing, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory...	OMIM:610910
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615500
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic...	OMIM:612650
Mucopolysaccharidosis Type 2	Hepatomegaly, Hip osteoarthritis, Flexion contracture of digit, Chronic diarrhea, Otosclerosis, T...	ORPHA:580
Alkaptonuria	Reduced bone mineral density, Prostatitis, Joint dislocation, Black pigment gallstones, Arthritis...	ORPHA:56
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:620032
Mucopolysaccharidosis Type 2, Attenuated Form	Diaphyseal undertubulation, Abnormal circulating enzyme concentration or activity, Chronic diarrh...	ORPHA:217093
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Gastroesophageal...	ORPHA:2032
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Polyarticular arthritis, Interphalangeal j...	OMIM:180300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Early ossificat...	ORPHA:397715
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Pneumothorax, Abnormal blood ion concentration, Pyoderma, Anemia, ...	ORPHA:79404
Mucoepithelial Dysplasia, Hereditary	Melena, Chronic diarrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Furrowed tongu...	OMIM:158310
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG l...	ORPHA:505248
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:614017
Systemic Lupus Erythematosus	Cheilitis, Lymphadenopathy, Malar rash, Arthritis, Discoid lupus rash, Leukopenia, Thrombocytopen...	ORPHA:536
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Gastroparesis, Gastroesophageal reflux, Weakness of facial mus...	ORPHA:70
Sclerosteosis 1	Mandibular prognathia, Facial palsy, Abnormal pelvic girdle bone morphology, Deviation of finger,...	OMIM:269500
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Biliary tr...	ORPHA:662
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr...	ORPHA:93111
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:614679
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin...	OMIM:604571
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi...	OMIM:617092
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ...	ORPHA:158057
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:616481
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Abnormal esophagus morphology, Constipation, Spontaneous esophageal perforation, Enamel h...	OMIM:226600
Igg4-Related Pachymeningitis	Pancreatitis, Lymphadenitis, Reduced circulating complement concentration, Increased circulating ...	ORPHA:449427
Timothy Syndrome	Pneumonia, Bronchitis, Cutaneous syndactyly, Hypocalcemia	OMIM:601005
Lacrimoauriculodentodigital Syndrome	Hypoplasia of the lacrimal punctum, Bifid uvula, Absent thumb, Dysphagia, Lacrimal duct aplasia, ...	ORPHA:2363
Geleophysic Dysplasia 3	Limited elbow movement, Hepatomegaly, Epiphyseal dysplasia, Delayed skeletal maturation, Brachyda...	OMIM:617809
Acute Liver Failure	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, D...	ORPHA:90062
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Chronic noninfectious lymphadenopathy, ...	ORPHA:97287
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Dermatochalasis, Blepharochalasis, Patellar dislocation, Hip dislocation,...	ORPHA:287
Poliomyelitis	Stiff neck, Myelitis, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Upper l...	ORPHA:2912
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Increased m...	OMIM:222470
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Anemia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Telecanth...	ORPHA:847
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Stiff neck, Increased red blood cell count, Myocardial necrosis, Facial p...	ORPHA:68
Gaisböck Syndrome	Peptic ulcer, Hypertriglyceridemia, Hyperproteinemia, Increased red blood cell count, Elevated pl...	ORPHA:90041
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre...	ORPHA:297
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Recurrent aspiration pneumonia, Flexion contracture, Gastroesophageal r...	ORPHA:79243
Acute Radiation Syndrome	Diarrhea, Vomiting, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Intersti...	ORPHA:454831
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Lymphopenia, Inflammation of the large intestine, Micrognathia, Pulmonary h...	OMIM:619708
Fabry Disease	Abnormal circulating lipid concentration, Reduced bone mineral density, Anemia, Abnormal femur mo...	ORPHA:324
Kindler Epidermolysis Bullosa	Ectropion, Cheilitis, Short 4th metacarpal, Anemia, Periodontitis, Finger syndactyly, Abnormal de...	ORPHA:2908
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Lymphadenopathy, Diarrhea, Pleural effusion, Bronchiectasis	ORPHA:411703
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Aspiration pneumonia, Increased susceptibility to fractures	ORPHA:216866
Schwartz-Jampel Syndrome	Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contracture, Abnorma...	ORPHA:800
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Recurrent bacterial infections	OMIM:244460
Hunter-Macdonald Syndrome	Short palpebral fissure, Clinodactyly of the 5th finger, Cubitus valgus, 2-3 toe syndactyly, Dela...	OMIM:611962
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Short long bone, Broad metacarpals, Aspiration pneumonia, Flared iliac...	ORPHA:79255
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Increased proportion of CD25+ mast cells, Recurrent infections, Abnormal pl...	ORPHA:167
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Seborrheic dermatitis, Abnormality of the lymphatic system, Foot polydactyly, 2-4 t...	ORPHA:276280
Japanese Encephalitis	Pulmonary edema, Distal lower limb muscle weakness, Stiff neck, Increased circulating antibody le...	ORPHA:79139
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Decreased circulating carnitine concentration, Decreased activity of NADPH oxidase,...	ORPHA:431361
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Ciliary Dyskinesia, Primary, 5	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:608647
Juvenile Neuronal Ceroid Lipofuscinosis	Dysphagia, Aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:79264
Granulomatosis With Polyangiitis	Chronic otitis media, Pleuritis, Localized pulmonary hemorrhage, Episcleritis, Sinusitis, Elevate...	OMIM:608710
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis, Hepatomegaly, Decreased HDL cholesterol ...	ORPHA:412
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Trismus, Bronchiolitis, Recurrent aspiration pneum...	OMIM:230900
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Short finger, Tapered finger	ORPHA:1867
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Arthritis, Hyperuricemia	ORPHA:411536
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Ectropion, Hypoplastic facial bones, Short humerus, Dysphagia, Long toe, Cl...	OMIM:264090
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Osteochondritis dissecans, Intervertebral disk degeneration, Knee osteoarthritis, H...	ORPHA:284984
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Vacuolated lym...	ORPHA:565612
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern, Elevated circulating carcinoembryonic antigen c...	ORPHA:264675
Crimean-Congo Hemorrhagic Fever	Hematemesis, Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly,...	ORPHA:99827
Glycogen Storage Disease Ic	Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Stomatitis, Hepatocellular carcin...	OMIM:232240
Interstitial Lung Disease 1	Clubbing, Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalv...	OMIM:619611
Arboleda-Tham Syndrome	Chronic otitis media, Sandal gap, Highly arched eyebrow, Lower limb amyotrophy, Intestinal malrot...	OMIM:616268
Schinzel-Giedion Midface Retraction Syndrome	Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowing, Postaxial han...	OMIM:269150
Immunoglobulin A Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Arthritis, Skin rash, Episcleritis, Pu...	ORPHA:761
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Jaundice, Hepatomegaly, Anemia, Decreased circulating antibody level, Cholestasis, Hepatosplenome...	ORPHA:247598
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch...	OMIM:613808
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Retrognathia, Short humerus, Joint hypermobility, Long toe, Hepatic steatos...	ORPHA:3455
Chronic Graft Versus Host Disease	Pneumothorax, Abnormal esophagus physiology, Elevated circulating hepatic transaminase concentrat...	ORPHA:99921
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level, Anemia	ORPHA:79396
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Behcet Syndrome	Iritis, Arthritis, Epididymitis, Iridocyclitis, Erythema nodosum	OMIM:109650
Cockayne Syndrome Type 1	Hypoplasia of the primary teeth, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:90321
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hepatic cysts, Gout	OMIM:618061
Alexander Disease	Osteopenia, High palate, Facial palsy, Bowel incontinence, Constipation, Ptosis, Dysphagia, Infec...	ORPHA:58
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Recurrent bacteria...	OMIM:608233
Lysinuric Protein Intolerance	Cirrhosis, Hepatomegaly, Pancreatitis, Increased circulating antibody level, Hemophagocytosis, An...	ORPHA:470
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:614935
Fibrochondrogenesis 1	Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho...	OMIM:228520
Noonan Syndrome 1	High, narrow palate, Juvenile myelomonocytic leukemia, Radial deviation of finger, Cubitus valgus...	OMIM:163950
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Thickened ...	OMIM:203500
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Reduced bone mineral density, Limitation of movement at ankles, Joint stiffness, Sh...	ORPHA:740
Neuroleptic Malignant Syndrome	Hyperkalemia, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hypocalcemi...	ORPHA:94093
Infantile Neuroaxonal Dystrophy	Constipation, Increased circulating lactate dehydrogenase concentration, Flexion contracture, Asp...	ORPHA:35069
Omodysplasia 2	Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte...	OMIM:164745
Melkersson-Rosenthal Syndrome	Cheilitis, Lymphadenopathy, Facial palsy, Furrowed tongue, Inflammatory abnormality of the skin, ...	ORPHA:2483
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Lacrimal Duct Defect	Lacrimal duct atresia, Sinusitis, Dacryocystitis, Conjunctivitis, Dacryocystocele	OMIM:149700
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Clubbing of fingers, Diarrhe...	OMIM:219700
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Tay-Sachs Disease	Limited elbow extension, Hip flexor weakness, Abnormal circulating enzyme concentration or activi...	ORPHA:845
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musculature, Type 1 ...	ORPHA:2020
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Surfactant Metabolism Dysfunction, Pulmonary, 2	Clubbing, Nonspecific interstitial pneumonia, Intraalveolar phospholipid accumulation, Intralobul...	OMIM:610913
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre...	OMIM:618699
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Telecanthus, Tracheomalacia, Ectopic anus, High palate, Tracheoe...	ORPHA:2745
Choreoacanthocytosis	Hepatomegaly, Arthritis, Distal amyotrophy, Blepharospasm, Abnormal erythrocyte enzyme concentrat...	ORPHA:2388
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Dental malocclusion, Scapular winging, Tapered finger, Carious teeth, Lacrimal duct stenosis, Dow...	OMIM:615560
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Joint contracture of the hand, Clinodactyly of the 5th finger, Delayed eruption of t...	OMIM:247200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Leukocytosis, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia	ORPHA:99843
Hypermobile Ehlers-Danlos Syndrome	Anorectal anomaly, Arachnodactyly, Joint hypermobility, Osteolysis, Hip dislocation, Joint disloc...	ORPHA:285
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Hartnup Disease	Glossitis, Skin rash, Infectious encephalitis	ORPHA:2116
Kabuki Syndrome 1	Bilateral ptosis, Highly arched eyebrow, Prominent fingertip pads, Intestinal malrotation, Recurr...	OMIM:147920
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Decreased circulating antibody level, Abnormality of the pancreas, Neutropenia	ORPHA:175
Generalized Eruptive Keratoacanthoma	Ectropion, Keratoconjunctivitis sicca, Dysphagia, Conjunctivitis, Pruritus	ORPHA:411777
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated circulating hepatic transaminase concentration, Skin rash, Abnormality of the anus, Ante...	ORPHA:95455
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Ac...	ORPHA:64
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, High palate, Downslanted palpebral fissures, Bifid uvula, Recurrent pneumonia, Recu...	OMIM:300472
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Entropion, Anemia, Elevated circulating hepatic transa...	ORPHA:36426
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Hemophilia A	Hematemesis, Melena, Muscle hemorrhage, Joint hemorrhage, Osteoarthritis	OMIM:306700
Lacrimoauriculodentodigital Syndrome 2	Abnormal thumb morphology, Lacrimal duct atresia, Carious teeth, Absent lacrimal punctum, Duplica...	OMIM:620192
Cirrhosis, Familial	Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Esophagea...	OMIM:215600
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Gastroesophageal reflux, Recurrent respiratory infections, Abnormal gastroin...	ORPHA:1018
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Highly arched eyebrow, Intestinal malro...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Highly arched eyebrow, Intestinal malro...	ORPHA:353277
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Pancreatitis, Entropion, Anemia, Elevated circulating hepatic transa...	ORPHA:537
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Pulmonary edema, Hyperkalemia, Anemia, Acute tubulointerstitial nephritis, Melena, E...	ORPHA:340
Yellow Fever	Jaundice, Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, In...	ORPHA:99829
Loeys-Dietz Syndrome 3	Retrognathia, Arachnodactyly, Bifid uvula, Left ventricular hypertrophy, Joint hypermobility, Cra...	OMIM:613795
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi...	OMIM:200980
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Pulmonary Alveolar Microlithiasis	Pneumothorax, Hepatomegaly, Pleural thickening, Clubbing of fingers, Bronchitis, Stippled calcifi...	ORPHA:60025
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, High palate, Ptosis, Downslanted palpebral fissures, Epicanthus, Gout, Increased p...	OMIM:300661
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Abnormal circulating interleukin concentration, Increased serum bile acid con...	ORPHA:69665
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Skeletal muscle hypertrophy, Short palpebral fissure, Mandibular prognathia, Osteoarthritis	OMIM:619714
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Hyperuricemia, Gout, Elevated circulating creatinine concentration, Tubulointerstitial ne...	OMIM:174000
Atypical Werner Syndrome	Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min...	ORPHA:79474
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral di...	OMIM:619656
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Gout	ORPHA:79233
Marfan Syndrome	Osteopenia, Limited elbow movement, High, narrow palate, Reduced bone mineral density, Retrognath...	ORPHA:558
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Absent eyelashes, Postaxial hand polydactyly, Ectrodactyly, Eczematoid der...	OMIM:308205
Medullary cystic kidney disease 2	Hyperuricemia, Tubulointerstitial nephritis, Gout	OMIM:603860
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Retrognathia, Anemia, Gastroesophageal reflux, Aspiration pneumonia, Osteoporosis, Co...	ORPHA:438213
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Glossoptosis, Fibular hypoplasia, Downsla...	ORPHA:444077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Pneumonia, Broad distal phalanx of finger, Gastroesophageal r...	ORPHA:353281
Yunis-Varon Syndrome	Absent sternal ossification, Flat acetabular roof, Decreased skull ossification, Hypoplastic faci...	OMIM:216340
Coffin-Siris Syndrome	Delayed eruption of teeth, Aspiration pneumonia, Delayed skeletal maturation, Ptosis, Thick eyebr...	ORPHA:1465
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t...	ORPHA:140
Hemophilia B	Hematemesis, Gastrointestinal hemorrhage, Melena, Joint hemorrhage, Osteoarthritis	OMIM:306900
Marfan Syndrome	Retrognathia, Arachnodactyly, Equinus calcaneus, Joint hypermobility, Narrow palate, Camptodactyl...	OMIM:154700
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus	ORPHA:1827
Fontaine Progeroid Syndrome	Retrognathia, Aplastic/hypoplastic lacrimal glands, Delayed skeletal maturation, Recurrent aspira...	OMIM:612289
Uremic Pruritus	Abnormal circulating cytokine concentration, Hypermagnesemia, Elevated total serum tryptase, Incr...	ORPHA:94059
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Congenital Tracheomalacia	Pneumothorax, Emphysema, Esophageal atresia, Gastroesophageal reflux, Tracheomalacia, Tracheobron...	ORPHA:95430
Autosomal Dominant Cutis Laxa	Osteopenia, Emphysema, Genu recurvatum, Delayed cranial suture closure, Wormian bones, Bronchioli...	ORPHA:90348
Malakoplakia	Neoplasm of the rectum, Diarrhea, Skin rash, Inflammatory abnormality of the skin, Orchitis, Neop...	ORPHA:556
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca	OMIM:270150
Lymphedema-Distichiasis Syndrome	Ectropion, Abnormality of the pulmonary vasculature, Distichiasis, Ptosis, Cleft palate, Conjunct...	ORPHA:33001
Trichinellosis	Trismus, Skin rash, Increased circulating IgE level, Facial palsy, Nausea, Conjunctival hyperemia...	ORPHA:863
Cysticercosis	Stiff neck, Increased circulating antibody level, Abnormal skeletal muscle morphology, Calcificat...	ORPHA:1560
Acromegaly	Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Broad jaw, Mand...	ORPHA:963
Williams Syndrome	Chronic otitis media, Abnormal circulating lipid concentration, Tracheoesophageal fistula, Joint ...	ORPHA:904
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular noncompaction, Hepatomegaly, Aspiration pneumonia, Left ventricular hypertrophy	OMIM:619167
Achalasia, Familial Esophageal	Rheumatoid arthritis, Achalasia, Xerostomia, Keratoconjunctivitis sicca	OMIM:200400
Doors Syndrome	Narrow palate, Bilateral ptosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly...	ORPHA:79500
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Blepharospasm, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Cogan Syndrome	Anemia, Thrombocytosis, Inflammatory abnormality of the eye, Leukocytosis, Episcleritis, Keratiti...	ORPHA:1467
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Conjugated...	ORPHA:234
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
Chediak-Higashi Syndrome	Recurrent infections, Recurrent systemic pyogenic infections, Impaired neutrophil bactericidal ac...	OMIM:214500
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Neurocutaneous Melanocytosis	Infectious encephalitis	ORPHA:2481
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Jaundice, Avascular necrosis, Vomiting, Hyponatremia, Pneumonia	ORPHA:90790
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Hydrolethalus Syndrome 1	Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi...	OMIM:236680
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Abnormal...	ORPHA:1876
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor...	OMIM:114290
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra...	OMIM:301220
Plasminogen Deficiency, Type I	Duodenal ulcer, Periodontitis, Decreased level of plasminogen, Conjunctivitis, Nephritis, Recurre...	OMIM:217090
Cholera	Hypokalemia, Diarrhea, Achlorhydria, Hypocalcemia, Aspiration pneumonia, Vomiting, Hyponatremia, ...	ORPHA:173
Patent Urachus	Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341
Combined Oxidative Phosphorylation Deficiency 25	Chronic constipation, Syndactyly, Aspiration pneumonia	OMIM:616430
Somatomammotropinoma	Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Broad jaw, Mand...	ORPHA:314769
Mercury Poisoning	Interstitial pneumonitis, Hypokalemia, Episodic vomiting, Nausea	ORPHA:330021
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Increased T cell count, Abnormal gastric mucos...	ORPHA:263665
Pmm2-Cdg	Osteopenia, Abnormal liver parenchyma morphology, Retrognathia, Elevated circulating hepatic tran...	ORPHA:79318
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Bone-marrow foam cells, Aspiration pneumonia, Low cholesterol esterificat...	ORPHA:646
Cerebral Visual Impairment	Infectious encephalitis	ORPHA:447788
Gitelman Syndrome	Hypermagnesemia, Neoplasm of the pancreas, Chondrocalcinosis, Iron deficiency anemia, Hypokalemia...	ORPHA:358
Vascular Ehlers-Danlos Syndrome	Pneumothorax, Gastrointestinal infarctions, High, narrow palate, Pulmonary artery aneurysm, Telec...	ORPHA:286
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hyperuricemia, Pancreatic hypoplasia, Ab...	OMIM:137920
Bickerstaff Brainstem Encephalitis	Facial palsy, Limb muscle weakness, Ptosis, Respiratory tract infection, Facial paralysis, Weakne...	ORPHA:79138
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Recurrent fractures	ORPHA:2785
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the lacrimal punctum, Bilateral triphalangeal thumbs, Absent radius, Delayed erupti...	OMIM:149730
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos...	OMIM:304120
17Q11 Microdeletion Syndrome	Osteopenia, Rhabdomyosarcoma, Abnormality of the sphenoid sinus, Diaphyseal dysplasia, Leukemia, ...	ORPHA:97685
Adult-Onset Autosomal Dominant Leukodystrophy	Constipation, Dysphagia, Flexion contracture, Aspiration pneumonia	ORPHA:99027
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hypocalcemia, Broad toe, Triphalangea...	OMIM:218330
Orofaciodigital Syndrome Type 4	Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Alobar Holoprosencephaly	Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, High palate, Aspiration pneu...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, High palate, Aspiration pneu...	ORPHA:93926
Lobar Holoprosencephaly	Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, High palate, Aspiration pneu...	ORPHA:93924
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Recurrent lower respiratory tract infect...	ORPHA:293987
Semilobar Holoprosencephaly	Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, High palate, Aspiration pneu...	ORPHA:220386
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Normocytic anemia, Reduced hematocrit, Increased circulating a...	ORPHA:91500
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacrimal punctal atresia	ORPHA:91416
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Small intestinal dysmotility, Aspiration pneumonia, Ineffective esophage...	OMIM:619482
Charge Syndrome	Hypoplasia of the ulna, Hypocalcemia, Absent tibia, Hand monodactyly, Bilateral talipes equinovar...	OMIM:214800
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Cherubism	Narrow palate, Lower eyelid retraction, Jaw swelling, Dental malocclusion, Multiple impacted teet...	OMIM:118400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency, Patent ductus arte...	ORPHA:500150
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Decreased circulating antibody level, Asplenia	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Decreased circulating antibody level, Patent ductus arteriosus	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Decreased circulating antibody level, Patent ductus arteriosus	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.

Phenotype	Allele	Zygosity	Life Stage
Spleen - MPATH pathological process term hyperplasia	Sh3bp2^{tm1b(KOMP)Wtsi}	HOM	Early adult
Tibia - MPATH pathological process term developmental dysplasia	Sh3bp2^{tm1b(KOMP)Wtsi}	HOM	Early adult
Liver - MPATH pathological process term hyperplasia	Sh3bp2^{tm1b(KOMP)Wtsi}	HOM	Early adult

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 Sh3bp2.

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

Title	Journal	IMPC Allele	PubMed ID
RANKL coordinates multiple osteoclastogenic pathways by regulating expression of ubiquitin ligase RNF146.	The Journal of clinical investigation (March 2017)	Sh3bp2^{tm1a(KOMP)Wtsi}	PMC5373870

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
Sh3bp2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Sh3bp2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Sh3bp2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sh3bp2^{tm45066(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sh3bp2^{tm45066(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sh3bp2 MGI:1346349

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Histopathology

Eye Morphology

Combined SHIRPA and Dysmorphology

Human diseases caused by Sh3bp2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data