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Gene: Sh3bp2 MGI:1346349

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Gene Summary

Name:
SH3-domain binding protein 2
Synonyms:
3BP2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Sh3bp2tm1b(KOMP)Wtsi HOM Early adult 2.14×10-05
short tibia Sh3bp2tm1b(KOMP)Wtsi HOM Early adult 2.38×10-05

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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.

Histopathology

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3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Gross Pathology and Tissue Collection

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8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Combined SHIRPA and Dysmorphology

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1 Images

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Eye Morphology

Images Slit Lamp

2 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.

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
Jaw swelling, Dental malocclusion, Narrow palate, Lower eyelid retraction, Multiple impacted teet... OMIM:118400

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... 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, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Osteolysis involving bones of the upper l... ORPHA:73
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Facial pals... ORPHA:53
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig... OMIM:616005
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:324964
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammati... ORPHA:39812
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Hypoplasia of the femoral head, Pn... OMIM:209950
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... ORPHA:33110
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... OMIM:259710
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... OMIM:616100
Osteochondrosis Of The Tarsal Bone
Foot pain, Tarsal sclerosis, Arthritis, Tarsal stippling, Ankle pain, Chondritis, Juvenile asepti... ORPHA:563991
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly OMIM:269840
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Avascular necrosis, Hemolytic anemia, ... ORPHA:809
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy... ORPHA:77297
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures ORPHA:57782
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... ORPHA:69126
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Cranio... OMIM:259700
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointer... ORPHA:37042
Poikiloderma With Neutropenia
Joint laxity, Skin rash, Elevated circulating creatine kinase concentration, Joint stiffness, Mic... OMIM:604173
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Pachydermoperiostosis
Bone pain, Avascular necrosis, Genu varum, Hepatomegaly, Acne, Osteoporosis, Anemia, Ptosis, Limi... ORPHA:2796
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical... OMIM:142680
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... OMIM:617591
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... ORPHA:566943
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of the... OMIM:615632
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Eosinophilia, Elevated circulating creatine kinase concentration, Fac... OMIM:253600
Aspergillosis
Sinusitis, Abnormal long bone morphology, Cough, Neutropenia, Infectious encephalitis, Chronic pu... ORPHA:1163
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Splenomegaly... OMIM:614470
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Increased circulating lacta... ORPHA:232
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... ORPHA:276
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... OMIM:300635
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
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
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reacti... OMIM:619381
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Elevated ... OMIM:612852
Mycetoma
Recurrent bacterial skin infections, Abnormality of the knee, Osteomyelitis, Bone cyst, Osteoporo... ORPHA:2583
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Skeletal muscle atrophy, Elev... OMIM:615934
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Osteomyelitis, Skin rash... ORPHA:2314
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Knee ... OMIM:600969
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, High pala... ORPHA:443811
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... ORPHA:793
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:85435
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club... ORPHA:1525
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Cough, Recurren... OMIM:614162
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Bo... ORPHA:37748
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho... ORPHA:811
Osteoporosis
Osteoporosis OMIM:166710
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... OMIM:265900
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... ORPHA:397596
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Muscular edema ORPHA:3165
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, I... ORPHA:227990
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:603909
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... ORPHA:90362
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
Ck Syndrome
Epicanthus, Micrognathia, Almond-shaped palpebral fissure, Retrognathia, Upslanted palpebral fiss... OMIM:300831
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Uveitis, Conjunctivit... ORPHA:32960
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... OMIM:166600
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, I... ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Discoid lupus rash, ... ORPHA:93552
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog... ORPHA:2619
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Hyponatremia, Malabsorption, M... ORPHA:3452
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis... ORPHA:2635
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Osteolytic defects of the phalanges of the hand OMIM:613115
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Epicanthus, Sandal gap, Malar flattening, Highly arched eyebrow, Long fingers, Dyspnea,... ORPHA:261279
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Avascula... ORPHA:1775
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... ORPHA:829
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Chronic Recurrent Multifocal Osteomyelitis 3
Palmoplantar pustulosis, Osteomyelitis, Bone pain OMIM:259680
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Focal Myositis
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration ORPHA:48918
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Vomiting,... ORPHA:2552
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Fanconi-Like Syndrome
Multiple bilateral pneumothoraces, Pancytopenia, Osteomyelitis, Recurrent lower respiratory tract... OMIM:227850
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Increased circula... ORPHA:228123
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... OMIM:300755
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Meta... ORPHA:750
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Intestinal obstruc... ORPHA:183
Brucellosis
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... ORPHA:1304
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... OMIM:112250
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Q Fever
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... ORPHA:781
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Keratitis, Tibial bowing, C... ORPHA:453510
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Antisynthetase Syndrome
Joint dislocation, Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating cr... ORPHA:81
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... OMIM:132400
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Recurrent cutaneous fungal infection... ORPHA:477
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Elevated circulating creatine kin... ORPHA:206569
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Keratitis, Carious teeth, Sparse eyebrow, Folliculitis, Conjunctivitis, Enamel ... OMIM:612843
Proteus Syndrome
Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Faci... OMIM:176920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Elevated circula... OMIM:619644
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis ORPHA:2218
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Telecanthus, Gastritis, Folate-unresponsive megaloblastic anemi... ORPHA:2575
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Biliary at... ORPHA:565899
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... ORPHA:1952
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Pustule, Wheezing, Recurrent tonsillitis, Hyperkalemia, Atopic derma... ORPHA:171876
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Splenomegaly, Flexi... OMIM:619183
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo... ORPHA:99867
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Neuropathy, Hereditary Sensory, Type Id
Distal lower limb amyotrophy, Osteomyelitis OMIM:613708
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... ORPHA:1486
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Bone... ORPHA:35687
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul... OMIM:228000
Hepatoerythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Abnormal circul... ORPHA:95159
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Bowing of the long bones, Recurre... ORPHA:61
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Listeriosis
Respiratory distress, Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Gran... ORPHA:533
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Hepatitis, Abnormal thymus morphology... ORPHA:589
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m... OMIM:619423
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... OMIM:300972
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... ORPHA:90291
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Conjunctival hyperemia, Erythema nodos... ORPHA:3392
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Increased circulating interleukin 6 concentr... OMIM:301074
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Abnormal circulating porphy... ORPHA:79277
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Gaucher Disease
Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Osteoarthri... ORPHA:355
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Craniosynostosis, Recurr... OMIM:147060
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Thrombocytopenia, S... ORPHA:905
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Abnormal pleura morphology, Abnormal immunoglobulin level,... ORPHA:3162
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Chronic diarrhea, Sh... ORPHA:39041
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis OMIM:216950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Hypoplasia ... OMIM:617425
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Delayed skeletal maturation, De... OMIM:616834
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Immunodeficiency, Common Variable, 6
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... OMIM:613496
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Recurrent fractures, Osteopetrosis OMIM:611490
Immunodeficiency 32B
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, Bronchiectasis,... OMIM:226990
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Neuropathic arthropathy, Limb pain, Distal amyotrophy, Gastroesophageal reflux, Co... ORPHA:36386
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Foot osteomyelitis, Hammertoe, Distal amyotrophy, Distal lower limb... OMIM:600882
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arthropathy, Intestinal pseudo-obstruction, Bone cyst, Abnormal shou... ORPHA:85446
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... ORPHA:2045
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytope... ORPHA:391487
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout OMIM:610947
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Blepharitis, Ectropion OMIM:308800
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metacarpal OMIM:619638
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholan... ORPHA:3260
Melioidosis
Foot osteomyelitis, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Brain abscess... ORPHA:31202
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridocyclitis, Diarrhea, C... OMIM:240300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Recurrent respiratory infections, Eczema, Craniosynostosis, Eosinophilia, Keratitis,... OMIM:618523
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Congenital Atransferrinemia
Arthritis, Anemia, Abnormality of the pancreas ORPHA:1195
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... OMIM:277440
Congenital Disorder Of Glycosylation, Type Iih
Epicanthus, Elevated circulating creatine kinase concentration, Elevated circulating aspartate am... OMIM:611182
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Skeletal muscle atrophy OMIM:162400
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th... ORPHA:231226
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating ... ORPHA:93672
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Decreased circulating antibody level ORPHA:99811
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, V... ORPHA:99845
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Abnormality of the temporomandibular joint, Flexion contracture, Gastroesophageal reflu... ORPHA:258
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... ORPHA:85184
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Behçet Disease
Myositis, Pulmonary embolism, Avascular necrosis, Infectious encephalitis, Acne, Retrobulbar opti... ORPHA:117
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Osteomyelitis OMIM:239840
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia ORPHA:85179
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Osteoporosis, Lymphaden... ORPHA:98848
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting... ORPHA:31204
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Ptosis, Aplasia/Hypoplasia of ... ORPHA:570
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Allergic rhinitis, ... OMIM:256500
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Diarrhea, Painless fractures due... OMIM:608654
Neuropathy, Hereditary Sensory, Type Ie
Osteomyelitis OMIM:614116
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level ORPHA:1296
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... ORPHA:486
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Bone pain, Ectopic ossification in muscle tissue, B... ORPHA:2762
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Secretory diarrhea, Clubbing, Hyperostosis, Hypoalbuminemia, Periost... OMIM:614441
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious ... OMIM:612714
Mucolipidosis Type Iii
Craniofacial hyperostosis, Acne, Joint stiffness, Cleft palate, Reduced bone mineral density, Abn... ORPHA:577
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Sparse eyelashes, Blepharitis, Eczema OMIM:618535
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Delayed epiphyseal ossification, Osteoarthritis, Small hand, Co... OMIM:618618
Legionnaires Disease
Hyponatremia, Pericarditis, Abnormal pleura morphology, Myocarditis, Splenomegaly, Jaundice, Diar... ORPHA:549
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Ptosis, Portal hyper... OMIM:613385
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Inf... ORPHA:42642
Idiopathic Camptocormia
Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl... ORPHA:1320
Endove Syndrome, Limb-Brain Type
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Triangular tibia, Talar a... OMIM:619218
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Conical primary incisor, Blepharitis OMIM:602400
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubb... OMIM:259100
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Diarrhea, Flexion contracture, Limita... ORPHA:231
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Mandibular prognathia, Osteoporosis, Gastroesophageal reflux, Intermittent diarrhea, Recurrent as... OMIM:619971
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Osteoporosis, A... ORPHA:93351
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... OMIM:264700
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Abnormal metatarsal morphology, Knee osteoarthritis, ... ORPHA:85408
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Rec... OMIM:614379
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, Delayed skeleta... OMIM:307200
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respira... ORPHA:2484
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger, Brachydactyly ORPHA:1937
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hyp... ORPHA:171
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Sparse eyelashes, Carious teeth, Thrombocytopenia, Esophage... OMIM:305000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hypoplasia of the maxilla, Absent eyelashes, Lacrimal duct atresia, 2-3 toe syn... OMIM:106260
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplas... ORPHA:562
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:241530
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... OMIM:607115
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Diarrhea, Wheezin... ORPHA:79456
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short 1st metacarpal, Delayed skeletal maturation, Joint hyperflexibil... ORPHA:63442
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Eczema, Eosinophilia, Delayed proximal femoral epiphyseal ... ORPHA:353298
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... ORPHA:79330
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Myeloma, Multiple
Paraproteinemia OMIM:254500
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ... OMIM:208230
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Increase... OMIM:603552
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Eczema, Elevated circulatin... OMIM:615895
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Sparse eyelashes, Sparse eyebrow, Abnormal lung morphology, Neonat... ORPHA:35173
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Myositis
Myositis OMIM:160750
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga OMIM:615612
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, P... OMIM:620005
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Pruritus, Celiac disease, Jaundice, Conjuga... ORPHA:186
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Malabsorption... ORPHA:83471
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Femoral bowing,... OMIM:617952
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Joint stiffness, Metatarsus adductu... ORPHA:584
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... OMIM:619573
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level ORPHA:100
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Pneumonia, Abnormality on pulmonary function testing, E... ORPHA:97244
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Entropion, Abnormal dental en... ORPHA:1896
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Menkes Disease
Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren... ORPHA:565
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Bloody di... ORPHA:84064
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Synophrys, High palate, Gastroesophageal reflux, Recurrent aspiration pneumonia, Microretrognathi... ORPHA:280633
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Bone pain, Abnormality of the wrist, Avascular necr... ORPHA:97332
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Carious teeth, Hepatitis, Enamel hypoplasia, Sparse lateral eye... ORPHA:363523
Lichen Planus Pemphigoides
Pruritus, Conjunctivitis, Blepharitis ORPHA:254478
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia... OMIM:613179
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit... OMIM:142669
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Sagittal cranios... OMIM:610199
Candidiasis, Familial, 8
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis OMIM:615527
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... OMIM:177170
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Submucous cleft hard palate, Periarticular soft... OMIM:601492
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated ... OMIM:302960
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Autosomal Recessive Hypophosphatemic Rickets
Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypophosphatemic rickets, G... ORPHA:289176
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cardiorespiratory arrest, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiectasis, Recur... OMIM:619446
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Bone pain, Osteolysis, Respiratory insufficiency... ORPHA:391
Acrodermatitis Enteropathica
Glossitis, Abnormal eyebrow morphology, Malabsorption, Pustule, Abnormal eyelid morphology, Chron... ORPHA:37
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Distal lower limb muscle weakness OMIM:613640
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Short foot, Periodontitis, Reduction of neutrophil motili... OMIM:266265
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Ret... ORPHA:79078
Dent Disease 1
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis OMIM:300918
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Femoral bowing, ... ORPHA:289157
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenome... ORPHA:91138
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominence of the premaxilla, Epicanthus, Delayed closure of the a... OMIM:614886
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... ORPHA:89936
Peeling Skin Syndrome 1
Eosinophilia, Pruritus, Asthma, Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... OMIM:116920
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm... ORPHA:292
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Protei... OMIM:619991
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Esophageal stricture, Delayed skeletal maturation, Osteopor... OMIM:615468
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Pustule, Diarrhea, Resp... ORPHA:29207
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Respiratory distress, Chronic lu... OMIM:613848
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin... ORPHA:1855
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Clouston Syndrome
Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Blepharitis OMIM:129500
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Zika Virus Disease
Maculopapular exanthema, Skin rash, Ankle swelling, Pruritus, Thrombocytopenia, Wrist swelling, A... ORPHA:448237
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses of the proximal... OMIM:190350
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con... OMIM:208250
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis, Secretory diarrhea, Periosteal thickening of long tubular bones, Clu... OMIM:167100
Aggressive Systemic Mastocytosis
Bone pain, Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis,... ORPHA:98850
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L... ORPHA:198
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... ORPHA:169105
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... ORPHA:567544
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... ORPHA:99642
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Joint dislocation, Multiple joint contractures, ... ORPHA:33364
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp... ORPHA:86820
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Neonatal alloim... ORPHA:51
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Idiopathic Achalasia
Bronchitis, Wheezing, Dysphagia, Gastroesophageal reflux, Cough, Decreased prealbumin level, Recu... ORPHA:930
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Cough, Splenomegaly,... OMIM:613490
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Lacrimal duct stenosis, Pneumonia, Short metatarsal, Cone-shaped ep... OMIM:613328
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Micrognathia, Metaphyseal wid... ORPHA:73230
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... OMIM:607850
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Sparse eyelashes, Malabsorption, Sparse eyeb... ORPHA:634
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... OMIM:602390
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... ORPHA:398063
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiecta... OMIM:615207
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level OMIM:619750
Cap Polyposis
Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis ORPHA:160148
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Broad hallux, Accelerated skeletal maturation, Short thumb, Premature oste... OMIM:165800
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe... ORPHA:319218
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Bowel incontinence, Gastrointestinal dysmotility, Camptodactyly, Flexion contractu... ORPHA:88628
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul... ORPHA:178320
Harlequin Ichthyosis
Recurrent respiratory infections, Limitation of joint mobility, Respiratory insufficiency, Hand p... ORPHA:457
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N... ORPHA:333
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis ORPHA:36237
Multiple Epiphyseal Dysplasia, Beighton Type
Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphology, Arthralgia of t... ORPHA:166011
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Vomitin... OMIM:277900
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... ORPHA:125
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Joint dislocation, Skin rash, Pruritus, Splenomegaly, Diarrhea, Dyspn... ORPHA:36412
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... ORPHA:1822
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... ORPHA:228426
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Crescentic glomerulone... OMIM:616414
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgG level, Decre... OMIM:607143
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,... ORPHA:575
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Ifap Syndrome 2
Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Angular cheilitis OMIM:619016
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Downslanted palpebral fissures, Aspiration pneumonia OMIM:609528
Isolated Sedoheptulokinase Deficiency
Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta... ORPHA:440713
Microlissencephaly
Pneumonia ORPHA:1083
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Keratitis, Delayed skeletal ma... ORPHA:910
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy, Acute hepatic failure, Microvesicular hepatic stea... OMIM:256810
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... ORPHA:249
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the wrist, Keratitis, Osteoarthritis, Osteolysis, Abnormal diap... ORPHA:1657
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Cleft palate, Malar flattening OMIM:184840
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Cholangiocarcinoma, Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Dec... ORPHA:465508
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Accelerated skeletal maturation, Metaphyseal widening, Flexion contracture, Short m... ORPHA:93307
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Hepatic steatosis, Decreased circulating IgA level OMIM:613327
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... ORPHA:1427
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Mandibular prognathia, Micrognathia, Vomiting, Gastroesophageal re... OMIM:150230
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Chikungunya
Periostitis, Enthesitis, Vomiting, Stiff interphalangeal joints, Infectious encephalitis, Maculop... ORPHA:324625
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, ... OMIM:607944
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Micrognathia, Hepatic melanin-like lysosomal... OMIM:208085
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Reduced bone mineral density, Vomiting, Neutropenia, Calcinosis, Hyp... ORPHA:2909
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... OMIM:181000
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Distal amyotrophy ORPHA:139578
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Pancreatic hyp... ORPHA:83617
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Villous atrophy, Microvillus inclusions, Respiratory tract infection, Secretory diarr... OMIM:619445
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Malar f... ORPHA:166100
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Micrognathia, Bilateral ptosis, Osteoarthritis, Squared iliac bones, O... OMIM:618000
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Nail-Patella Syndrome
Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology,... ORPHA:2614
Peripheral Dysostosis
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... ORPHA:1795
Limb-Mammary Syndrome
Syndactyly, Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, ... ORPHA:69085
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614921
Cinca Syndrome
Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive prot... ORPHA:1451
Roifman Syndrome
Hepatomegaly, Short metacarpal, Hip contracture, Eczema, Eosinophilia, Splenomegaly, Short toe, R... OMIM:616651
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Short toe, Osteoarthritis, Abnormality of the elbow, Abn... ORPHA:429
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Diffuse Cutaneous Systemic Sclerosis
Malabsorption, Carious teeth, Dyspnea, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Na... ORPHA:220393
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... ORPHA:93311
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Decreased ci... ORPHA:101330
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... ORPHA:93360
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Delayed skeletal ma... ORPHA:85198
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholester... ORPHA:77296
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormal dental enamel morph... ORPHA:2273
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Acne, Camptodactyly of finger, Genu recurvatum,... ORPHA:137834
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Metaphyseal widening, Delayed epiphyseal ossification, Short met... ORPHA:93314
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Celiac disease, ... ORPHA:199299
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Increased circula... OMIM:619472
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Hypoalbuminemia, Respiratory insufficiency, Malabsorption ORPHA:1954
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Acne, Delayed cranial suture closure, Micrognathia, Metatar... OMIM:249420
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Subluxation of the small ... ORPHA:206572
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, D... OMIM:253260
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... ORPHA:2710
Sydenham Chorea
Septic arthritis, Endocarditis, Recurrent streptococcus pneumoniae infections ORPHA:306731
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi... OMIM:212065
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... ORPHA:356961
Cornelia De Lange Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Synophrys, High palat... ORPHA:199
Monosomy 22
Finger syndactyly, Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Clubbing,... ORPHA:96123
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Coxa valga, Splenomegaly, Joint stiffness, Decreased beta-galact... OMIM:230600
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Pruritus, Conjugated hyperbili... OMIM:613404
Tetrasomy 9P
Joint dislocation, Myositis, Micrognathia, Biliary atresia, High palate, Clinodactyly of the 5th ... ORPHA:3310
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis... ORPHA:2331
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Malar rash, Ne... OMIM:152700
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Anemia ORPHA:375
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Lower limb muscle weakness, Respiratory in... ORPHA:2590
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Hypoalbuminemia OMIM:227090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Abnormality on pulmonary function testin... ORPHA:90289
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ... OMIM:606069
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Osteomyelitis, Neuropathic arthropathy OMIM:256800
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B... ORPHA:163934
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Acne, Micrognathia, Abnormality of the humerus, Preaxial ... ORPHA:3098
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Asthma, Chronic diarrhea, Flexion contracture, Retrognathi... OMIM:601675
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De... ORPHA:420741
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Decreas... OMIM:203800
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Neonatal asphyxia, Asthma, Erythroderma OMIM:608649
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... ORPHA:93352
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Tibial Hemimelia
Absent tibia OMIM:275220
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Erythroderma, Punctate keratitis OMIM:602540
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Abnormal morphology of uln... ORPHA:93
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphys... ORPHA:90653
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Ele... ORPHA:1652
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Reynolds Syndrome
Hepatomegaly, Skin rash, Pruritus, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Resp... ORPHA:779
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... ORPHA:2848
Shigellosis
Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ile... ORPHA:810
Lamellar Ichthyosis
Recurrent respiratory infections, Pruritus, Erythroderma, Chronic otitis media, Aplasia/Hypoplasi... ORPHA:313
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... OMIM:232800
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Alpha-Mannosidosis, Adult Form
Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenteritis ORPHA:309288
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Abnormal tibia morphology,... ORPHA:666
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... OMIM:271650
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Flexion contracture of finger, Bowing of the long bones, Apnea,... ORPHA:3206
Pyomyositis
Leukocytosis, Recurrent cutaneous abscess formation, Myositis ORPHA:764
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Flattened metacarpal heads, Flattened metatarsal heads OMIM:271600
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Ethylene Glycol Poisoning
Gastritis, Facial palsy, Abnormal pattern of respiration, Episodic respiratory distress, Tachypne... ORPHA:31826
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Slipped Femoral Capital Epiphyses
Hip osteoarthritis, Proximal femoral epiphysiolysis OMIM:182260
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Seborrh... OMIM:301072
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypoproteinemia, Skin rash, Hypertriglyceridemia, Eleva... OMIM:603553
Congenital Ichthyosiform Erythroderma
Keratitis, Ectropion, Erythroderma, Pruritus ORPHA:79394
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea,... OMIM:612387
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Abnormal pelvis bone morphology ORPHA:2206
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Ichthyosis, Congenital, Autosomal Recessive 1
Ectropion, Flexion contracture, Erythroderma OMIM:242300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Telecanthus, Toe syndactyly, Absence of Stensen duct, Sparse ey... OMIM:129900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ... OMIM:253700
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin con... OMIM:618963
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Bone pain, Osteolytic d... OMIM:161700
Congenital Disorder Of Glycosylation, Type If
Wide anterior fontanel, Flexion contracture, Erythroderma OMIM:609180
22Q11.2 Deletion Syndrome
Impaired T cell function, Micrognathia, Abnormal eyelid morphology, Anorectal anomaly, Abnormal l... ORPHA:567
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Neutropenia, Stom... OMIM:246400
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Uveitis, Enthesitis, Abnormal shoulder morphology, Ir... ORPHA:85436
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... OMIM:131300
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Abn... ORPHA:642
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Sparse eyelashes, Lacrimal duct stenosis,... OMIM:604292
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Elevated circulating C-reactive protein concentration, Pul... ORPHA:70591
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p... ORPHA:98905
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Patent ductus arteriosus, Annular pancreas OMIM:618162
Laron Syndrome
Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, Del... ORPHA:633
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatiti... OMIM:614602
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Asthma, Xerostomia, Arth... OMIM:617321
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g... ORPHA:91139
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Pruritus, Elevated circulating alkaline phosphatase concentration,... ORPHA:562639
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Prolidase Deficiency
Hepatomegaly, Recurrent respiratory infections, Arachnodactyly, Micrognathia, Pruritus, Splenomeg... ORPHA:742
Ichthyosis With Confetti
Pruritus, Ectropion, Clubbing, Erythroderma OMIM:609165
Juvenile Xanthogranuloma
Iritis, Blepharitis, Myeloproliferative disorder, Uveitis ORPHA:158000
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology ORPHA:93283
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis OMIM:239000
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... OMIM:615816
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Vomiting, Neutr... ORPHA:221016
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Episo... OMIM:238970
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... OMIM:620306
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Bathing Suit Ichthyosis
Ectropion, Multiple joint contractures, Erythroderma ORPHA:100976
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Takayasu Arteritis
Increased inflammatory response, Arthritis, Gastrointestinal infarctions, Pulmonary arterial hype... ORPHA:3287
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent ... OMIM:309583
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle... OMIM:620080
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Osteoarthritis, Brachydactyly ORPHA:435804
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uve... ORPHA:319251
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Tachypnea, Reduced bone mineral density, High palate, Vomiting, Gastroesophageal refl... OMIM:613658
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, Limitation ... ORPHA:728
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Skin rash, Abnormal dental enamel morphology, Pruritus, Cheilit... ORPHA:1334
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility OMIM:130020
Lichen Planopilaris
Pruritus, Pterygium, Abnormal intestine morphology, Hepatitis ORPHA:525
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... ORPHA:60033
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Premature osteoarthritis... OMIM:215150
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Erythroderma ORPHA:312
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... OMIM:269200
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... ORPHA:36238
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic diarrh... OMIM:242700
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... OMIM:232220
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Gastroesophageal reflux, Hypoalbuminemia, Abnormal bon... ORPHA:79324
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Alpha-Mannosidosis, Infantile Form
Osteopenia, Mandibular prognathia, Cortical thickening of long bone diaphyses, Otitis media, Hypo... ORPHA:309282
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Cherubism
Bone cyst ORPHA:184
Gm1 Gangliosidosis
Mandibular prognathia, Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness... ORPHA:354
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Osteoarthritis, Ulnar bowing, Flared metaphysis, Delayed skeletal maturation, Coxa... OMIM:602111
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Thrombocytopenia, Dyspnea, Osteoporosis, Hepatic necrosis, Leukop... OMIM:127550
Faciocardiomelic Syndrome
Osteopenia, Ptosis, Telecanthus, Dysharmonic bone age, Micrognathia, Dental malocclusion, Slender... OMIM:612731
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta... ORPHA:169090
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Vomiting, Neutropenia, Short phalanx of finger,... ORPHA:221008
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Diarrhea, Abnormal... ORPHA:99745
Propionic Acidemia
Hepatomegaly, Pancytopenia, Apnea, Eczema, Thrombocytopenia, Tachypnea, Osteoporosis, Hyperammone... OMIM:606054
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash, Pleuritis OMIM:609939
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, ... ORPHA:79259
Muckle-Wells Syndrome
Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Leukocytosis, Clu... OMIM:191900
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Arthritis, Myopathy, Dysphagia, Increased variability in mu... ORPHA:397744
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection,... ORPHA:79128
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertrigly... OMIM:267700
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... ORPHA:732
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
H Syndrome
Hallux valgus, Abnormal eyebrow morphology, Psoriasiform dermatitis, Hypertriglyceridemia, Recurr... ORPHA:168569
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Familial Cold Urticaria
Pruritus, Arthritis, Conjunctivitis ORPHA:47045
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, Atopic dermatitis, Conjun... OMIM:603165
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia, Gout ORPHA:510
Leukonychia Totalis
Abnormal eyelash morphology, Blepharitis ORPHA:2387
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Synophrys, Vomiting, High palate, Otitis media, Hepatic steatosis, Joint lax... OMIM:619475
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Joint stiffness, Micrognathia, Osteoarthritis, Submucous cleft hard ... OMIM:108300
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Gas... ORPHA:436252
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... ORPHA:87503
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Epicanthus, Joint hypermobility, Hype... OMIM:130000
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis, Bone pain, Elevated circulating alkaline phosphatase concent... OMIM:616833
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... OMIM:242900
Monosomy 18Q
Patent ductus arteriosus, Decreased circulating IgA level ORPHA:1600
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... OMIM:617052
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Osteoarthritis, Avascular necrosis, Joint stiffness ORPHA:1345
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia OMIM:617056
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Distal amyotrophy, Hypotriglyceridemia, Decreased circulating apolipoprotein ... OMIM:256840
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Anterior uveitis, Abnormal metacarpophalangeal joint morphology, Thickened Ach... ORPHA:85438
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenopathy, Restrictive ven... ORPHA:83317
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Mulibrey Nanism
Hepatomegaly, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental malo... OMIM:253250
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Myocarditis, Splenomegaly, Diarrhea, Dyspnea, Lym... ORPHA:3386
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o... ORPHA:400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgA level ORPHA:369837
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis OMIM:121270
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Mirage Syndrome
Hyponatremia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Chronic diarrhea, Esophagea... OMIM:617053
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Severe Hemophilia A
Gastrointestinal hemorrhage, Limb joint contracture, Epistaxis, Limitation of joint mobility, Syn... ORPHA:169802
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Dec... OMIM:614576
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Absent eyebrow, Splenomegaly, Jaundice... OMIM:263700
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Myocarditis, Recurrent pharyngiti... ORPHA:3099
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Avascular necrosis, Hepatomega... OMIM:253200
Shox-Related Short Stature
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... ORPHA:314795
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Intestinal obstruction, Skin rash, Malabsorption, Orchitis, ... ORPHA:342
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Odynophagia, Uveitis, Bl... ORPHA:99826
Vertical Talus, Congenital
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hyperlipidemia, Osteoporosis,... OMIM:232200
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Conjunctival hyperemia, Jaundice, Di... ORPHA:509
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Erythroderma OMIM:604777
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Fulminant hepatitis, Jaundice, Hepatic failu... OMIM:618549
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Spondylosis, Cervical
Osteoarthritis, Spina bifida occulta OMIM:184300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Avascular necrosis of the capital femoral epiphysis, Arthritis, Cervical subluxation, Malar flatt... OMIM:184100
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Skin rash, Diarrhea, Osteoporosis, Increased serum zinc OMIM:601979
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Absent frontal sinuses, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Blau Syndrome
Xerostomia, Abnormality of the liver, Posterior uveitis, Abnormal salivary gland morphology, Faci... ORPHA:90340
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Camptodactyly of finger, Flexion contracture, Hyperammonemia, Respiratory failure, ... ORPHA:1194
Autosomal Recessive Malignant Osteopetrosis
Apnea, Bone pain, Reduced bone mineral density, Hypocalcemia, Otitis media, Hepatomegaly, Pulmona... ORPHA:667
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Increased circulating IgM... OMIM:617303
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis ORPHA:66630
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Narrow palate, Shallow orbits, Broa... OMIM:277600
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio... ORPHA:85410
Ichthyosis, Congenital, Autosomal Recessive 9
Ectropion, Erythroderma OMIM:615023
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... ORPHA:678
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... ORPHA:79332
Pemphigus Foliaceus
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Elevate... ORPHA:79126
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intr... OMIM:610910
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Epicanthus, Campt... ORPHA:2136
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... ORPHA:90003
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, M... OMIM:620233
Weill-Marchesani Syndrome 2
Short metacarpal, Joint stiffness, Broad metatarsal, Hypoplasia of the maxilla, Delayed skeletal ... OMIM:608328
Say-Barber-Miller Syndrome
Micrognathia, Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, High pal... ORPHA:3132
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Eczema, Thrombocytopenia, Recurrent u... ORPHA:508542
Crouzon Syndrome
Hypoplasia of the maxilla, Respiratory insufficiency, Narrow palate, Multiple suture craniosynost... ORPHA:207
Digeorge Syndrome
Impaired T cell function, Micrognathia, High, narrow palate, Abnormal thymus morphology, Hypoplas... OMIM:188400
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:828
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Elevated circulating C-reactive protein concentration... ORPHA:319213
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Cutaneous finger syndactyly, Protein-losing enteropathy, Hypoal... OMIM:235510
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Epicanthus, Eczema, Seborrheic dermatitis, Micrognathia, High, narrow ... ORPHA:369950
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening OMIM:617994
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Seborrheic dermatitis, Micrognathia, Microvesicular hepatic steato... OMIM:300868
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, High, narrow palate, ... OMIM:122470
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Hennekam-Beemer Syndrome
Pneumonia, Camptodactyly of finger, Micrognathia, Pruritus, Respiratory insufficiency, Upslanted ... ORPHA:2135
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Macs Syndrome
Joint laxity, Epicanthus, Palpebral edema, Micrognathia, Sparse eyebrow, Osteoporosis, Bronchiect... OMIM:613075
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... ORPHA:79329
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Transketolase Deficiency
Hepatomegaly, Seborrheic dermatitis, Uveitis, Conjunctivitis, Elevated circulating ribitol concen... ORPHA:488618
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Skele... OMIM:256040
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, T lymphocytopenia, Bronch... OMIM:251260
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Micrognathia, Synophrys, Leukopenia, Iron deficiency anemi... OMIM:619488
Ichthyosis, Congenital, Autosomal Recessive 6
Ectropion, Erythroderma OMIM:612281
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Telecanthus, Apnea, Micrognathia,... ORPHA:314655
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Marshall-Smith Syndrome
Large sternal ossification centers, Apnea, Accelerated skeletal maturation, Synophrys, Distal wid... OMIM:602535
Mucopolysaccharidosis Type 3
Adenoiditis, Synophrys, Flexion contracture, Reduced bone mineral density, Aspiration pneumonia, ... ORPHA:581
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... ORPHA:264675
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Neutropenia, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumon... OMIM:618253
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Skin rash, Eosinophilia, Camptodactyly of finger, A... ORPHA:464
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Exercise-induced rhabdo... ORPHA:26793
Acute Disseminated Encephalomyelitis
Viral hepatitis, Respiratory failure requiring assisted ventilation, Herpes simplex encephalitis,... ORPHA:83597
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hypoammonemia, Micrognathia, Periodontitis, Gastroesophageal reflux, Chron... ORPHA:534
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Gastrointestinal in... ORPHA:464343
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... OMIM:605822
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... ORPHA:56
Giant Cell Arteritis
Pericarditis, Epistaxis, Abnormal pleura morphology, Joint stiffness, Mediastinal lymphadenopathy... ORPHA:397
Moderate Hemophilia A
Gastrointestinal hemorrhage, Hip contracture, Arthropathy, Limitation of joint mobility, Synoviti... ORPHA:169805
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbin... ORPHA:79127
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Plague
Respiratory distress, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, In... ORPHA:707
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Erythroderma Desquamativum
Diarrhea, Seborrheic dermatitis ORPHA:314
Immunodeficiency 77
Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous ab... OMIM:619223
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation ORPHA:36397
Dowling-Degos Disease
Pruritus, Arthritis, Anal margin squamous cell carcinoma, Acne inversa ORPHA:79145
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Keratitis, Hypoplasia of the maxilla, Conjuncti... OMIM:123500
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B... OMIM:617092
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Familial Tumoral Calcinosis
Calcification of muscles, Hepatomegaly, Skin rash, Splenomegaly, Bone pain, Hyperostosis ORPHA:53715
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Nonproductive cough, Dyspnea, Ast... ORPHA:97287
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Seborrheic dermatitis, Hyperammonemia, Vomiting, H... OMIM:210210
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen... ORPHA:797
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... OMIM:602080
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Abnormal eyelid mo... ORPHA:449563
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Micrognathia, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Recurrent otitis medi... OMIM:602562
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Short metacarpal, Short fi... ORPHA:79444
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentra... ORPHA:79099
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Cystic Fibrosis
Osteopenia, Recurrent respiratory infections, Elevated hepatic transaminase, Sinusitis, Meconium ... ORPHA:586
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver, Infectious encephalitis ORPHA:205
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin ... ORPHA:90041
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Clu... OMIM:619611
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses... ORPHA:96334
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Eczema, Aplastic clavicle, Tarsal synostosis, Micrognathia, Abnormal dental ename... ORPHA:85199
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Marshall Syndrome
Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Osteoarthritis, Hypopl... ORPHA:560
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Leu... ORPHA:536
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Aortic Aneurysm, Familial Thoracic 12
Arthritis, Chronic pulmonary obstruction, High palate, Spontaneous pneumothorax OMIM:619825
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Hyperammonemia, Hyperornithine... ORPHA:415
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Pseudohypoparathyroidism Type 1A
Short metatarsal, Reduced bone mineral density, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany... ORPHA:79443
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Sternocleidomastoid amyotrophy, Delayed ske... ORPHA:488434
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Abnormal pattern of respir... ORPHA:90062
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Abnormal fingertip morphology, Dyspne... ORPHA:79404
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Biliary... ORPHA:2298
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Overlapping fingers, Recurre... OMIM:615966
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Arachnodactyly, Cleft soft palate, Eosinophilic infiltra... OMIM:615582
Fanconi Anemia, Complementation Group F
Pneumonia, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Anemia, Le... OMIM:603467
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Geleophysic Dysplasia 3
Hepatomegaly, Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dy... OMIM:617809
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Recurrent respiratory infections, Gout, Arthritis, Hyperuricemia, Increased phosphoribosylpyropho... ORPHA:411543
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... OMIM:242840
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Hyperuricemia, Gout OMIM:162000
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough ORPHA:99825
Chops Syndrome
Thick eyebrow, Gastroparesis, Splenomegaly, High, narrow palate, Synophrys, Anomalous pulmonary v... OMIM:616368
Fabry Disease
Conjunctival telangiectasia, Malabsorption, Dyspnea, Hyperlipidemia, Emphysema, Chronic pulmonary... ORPHA:324
Hereditary Xanthinuria
Arthropathy, Reduced xanthine dehydrogenase level, Hypouricemia, Sulfite oxidase deficiency, Hype... ORPHA:3467
Meningococcal Meningitis
Neonatal respiratory distress, Projectile vomiting, Skin rash, Stiff neck, Elevated circulating C... ORPHA:33475
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Flexion contracture, Uvei... ORPHA:90322
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Limitation of joint mobility, Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular e... OMIM:313400
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Epicanthus, Abnormal acetabulum ... ORPHA:397715
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Abnormal circulating enzyme concentration or activity, Camptodactyly of finger, Spl... ORPHA:217085
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... OMIM:604571
Hemophilia A
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage OMIM:306700
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L... ORPHA:50918
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Stiff neck, Lower li... ORPHA:2912
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Trismus, Anemia, Stridor, Gastroesophageal reflux, Dysp... OMIM:230900
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis... OMIM:158310
Mucopolysaccharidosis Type 2
Hepatomegaly, Otosclerosis, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Limitation of joint... ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Abnormal circulating enzyme concentration or activity, Camptodactyly of finger, Spl... ORPHA:217093
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... OMIM:180300
Timothy Syndrome
Pneumonia, Bronchitis, Cutaneous syndactyly, Hypocalcemia, Pulmonary arterial hypertension OMIM:601005
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... ORPHA:542323
Japanese Encephalitis
Respiratory distress, Hyponatremia, Skeletal muscle atrophy, Neutrophilia, Stiff neck, Pulmonary ... ORPHA:79139
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Increased circulating IgM level, ... ORPHA:505248
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Nausea, Facial pal... ORPHA:68
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu... ORPHA:79264
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatitis ORPHA:449427
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypopla... ORPHA:93111
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, 2-3 finger syndactyly, Denta... OMIM:269500
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Micrognathia, Flexion contracture, Knee flexion contracture, High pal... ORPHA:2020
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... OMIM:222470
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Increased susceptibility to fractures, Aspiration pneumonia, Dysphagia ORPHA:216866
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Abnormal salivary gland morphology, Abnormal digit morphology, Bifid uv... ORPHA:2363
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Flexion contracture, Gastroesophageal re... ORPHA:79243
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Abnormal esophagus... OMIM:226600
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... ORPHA:565612
Classical Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Rectal prolapse, Generali... ORPHA:287
Chédiak-Higashi Syndrome
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... ORPHA:167
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Epicanthus, Telecanthus, Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Flexion con... ORPHA:847
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ... ORPHA:800
Arboleda-Tham Syndrome
Respiratory distress, Mandibular prognathia, Conjunctivitis, Gastroesophageal reflux, Chronic oti... OMIM:616268
Crimean-Congo Hemorrhagic Fever
Stiff neck, Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating... ORPHA:99827
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Epicanthus, Apnea, Malabsorption, Elbow dislocation, Osteoarthritis, Anorectal... ORPHA:285
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Blepharophimosis, Metatarsus adductus, Cubitus valgus, Delayed skeletal mat... OMIM:611962
Tay-Sachs Disease
Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Hip flexor weakne... ORPHA:845
Chronic Graft Versus Host Disease
Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasi... ORPHA:99921
Kindler Epidermolysis Bullosa
Finger syndactyly, Ectropion, Recurrent skin infections, Camptodactyly of finger, Abnormal dental... ORPHA:2908
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Abnormality of the lymphatic system, Foo... ORPHA:276280
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Short finger, Tapered finger ORPHA:1867
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Genu varum, ... OMIM:264090
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Abnormal eyelid m... ORPHA:221
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Decreased activity of NADPH oxidase, Aspiration pne... ORPHA:431361
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli... ORPHA:284984
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of t... OMIM:619708
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... ORPHA:454831
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased circulating antibody level, He... ORPHA:247598
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Arthritis, Gastrointesti... ORPHA:761
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Glycogen Storage Disease Ic
Hepatomegaly, Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recurrent... OMIM:232240
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia ORPHA:411536
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Macroglossia, Flared iliac wing, Short long bone, Decreased beta-galactosidas... ORPHA:79255
Schinzel-Giedion Midface Retraction Syndrome
Wormian bones, Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand po... OMIM:269150
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Alexander Disease
Osteopenia, Facial palsy, Bowel incontinence, Respiratory insufficiency, High palate, Constipatio... ORPHA:58
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteoarthritis, Reduced bone mineral density, High palate, Shallow orbits, Avascula... ORPHA:740
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Lysinuric Protein Intolerance
Hepatomegaly, Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Abnorma... ORPHA:470
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis OMIM:109650
Infantile Neuroaxonal Dystrophy
Flexion contracture, Apneic episodes in infancy, Constipation, Aspiration pneumonia, Increased ci... ORPHA:35069
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Gout OMIM:618061
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Synophrys, Hepatic steatosis, Long toe, Lagophthalmos, 2-3 toe syndactyly, Widely pat... ORPHA:3455
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... OMIM:608233
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Foot joint contracture, Delay... ORPHA:90321
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ptosis, Epicanthus, Micrognat... OMIM:163950
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr... ORPHA:94093
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Furrowed tongue, Lymphadenopathy, ... ORPHA:2483
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Lacrimal Duct Defect
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele OMIM:149700
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Thickened Achilles tendon, L... OMIM:203500
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointest... ORPHA:95455
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Entropion, A... ORPHA:537
Hartnup Disease
Skin rash, Infectious encephalitis, Glossitis, Malabsorption ORPHA:2116
Opitz Gbbb Syndrome
Natal tooth, Prominent metopic ridge, Telecanthus, Craniosynostosis, Micrognathia, Congenital dia... ORPHA:2745
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Entropion, ... ORPHA:36426
Alström Syndrome
Respiratory distress, Abnormality of dental color, Accelerated skeletal maturation, Hepatic fibro... ORPHA:64
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia ORPHA:99843
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered fing... OMIM:615560
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, High palate, Gastroesophageal reflux, Otitis media, Aspiration, Joint laxity, Synda... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, High palate, Gastroesophageal reflux, Otitis media, Aspiration, Joint laxity, Synda... ORPHA:353277
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperis... ORPHA:1018
Marfan Syndrome
Osteopenia, Pulmonary artery dilatation, Skeletal muscle atrophy, Arthralgia/arthritis, Arachnoda... ORPHA:558
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Epicanthus, Micrognathia, Cleft palate, Upslanted palpebral fissure, P... OMIM:247200
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Choreoacanthocytosis
Hepatomegaly, Temporomandibular joint crepitus, Elevated circulating creatine kinase concentratio... ORPHA:2388
Generalized Eruptive Keratoacanthoma
Pruritus, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion ORPHA:411777
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pad... OMIM:147920
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Esophageal varix, Incre... OMIM:215600
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Recurrent skin infections, Eczema, Aganglionic megacolon, Keratitis, Absent eyela... OMIM:308205
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis... ORPHA:99829
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Synophrys, Glossoptosis, High palate, Gastroesophageal reflux, Aspiration pneumonia... ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, ... ORPHA:438213
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Duplication of thumb phalanx, Abnormal thumb morphology, Carious teeth, ... OMIM:620192
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Chronic constipation, High palate, Downslanted palpebral fissures, Retrognat... OMIM:300472
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Gastroesophageal reflux, Otitis media, Joint laxity, Broad hallux, Supernumerary tooth, Talon cus... ORPHA:353281
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Osteoarthritis, Short palpebral fissure, Skeletal muscle hypertrophy OMIM:619714
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Gout, Increased phosphoribosylpyrophosphate synthetase level, High palate, Hyperurice... OMIM:300661
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Hyperuricemia, Gout OMIM:603860
Yunis-Varon Syndrome
Congenital hip dislocation, Micrognathia, Short metatarsal, High palate, Absent hallux, Aspiratio... OMIM:216340
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hyperuricemia,... OMIM:174000
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Hypoplasia of the abdominal ... OMIM:612289
Coffin-Siris Syndrome
Joint laxity, Delayed eruption of teeth, Delayed skeletal maturation, Recurrent upper respiratory... ORPHA:1465
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... ORPHA:94059
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Pruritus, Orchitis, Urin... ORPHA:556
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Trichinellosis
Skin rash, Facial palsy, Trismus, Increased circulating IgE level, Conjunctivitis, Dysphagia, Con... ORPHA:863
Doors Syndrome
Respiratory distress, Abnormal finger morphology, High palate, Gastroesophageal reflux, Aspiratio... ORPHA:79500
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Rectal prolapse, Ga... ORPHA:904
Marfan Syndrome
Decreased muscle mass, Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion contracture, Hig... OMIM:154700
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Blepharospasm, Aspiration pneumonia, Protruding tongue ORPHA:53351
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Acromegaly
Mandibular prognathia, Broad jaw, Acne, Macrodactyly, Palpebral edema, Tapered finger, Osteoarthr... ORPHA:963
Lymphedema-Distichiasis Syndrome
Ectropion, Recurrent skin infections, Cleft palate, Tubulointerstitial nephritis, Conjunctivitis,... ORPHA:33001
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Hypokalemia, Episod... ORPHA:330021
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Hepatomegaly, Left ventricular noncompaction, Aspiration pneumonia OMIM:619167
Cysticercosis
Calcification of muscles, Stiff neck, Iridocyclitis, Abnormal skeletal muscle morphology, Increas... ORPHA:1560
Cholera
Hyponatremia, Achlorhydria, Diarrhea, Tachypnea, Abnormal blood ion concentration, Hypokalemia, V... ORPHA:173
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Hip osteoarthritis, Intervertebral disc degener... OMIM:619656
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice, Biliar... ORPHA:234
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Pneumonia, Jaundice, Hyperkalemia, Vomiting, Avascular necrosis ORPHA:90790
Chromomycosis
Recurrent bacterial infections ORPHA:182
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... ORPHA:79138
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Cr... OMIM:613795
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Aspiration pneumonia, Syndactyly OMIM:616430
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice... ORPHA:646
Plasminogen Deficiency, Type I
Duodenal ulcer, Recurrent upper respiratory tract infections, Decreased level of plasminogen, Con... OMIM:217090
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Palpebral edema, Macrodactyly, Tapered finger, Osteoarthritis, ... ORPHA:314769
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Respiratory distress, Mandib... ORPHA:79318
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Cerebral Visual Impairment
Infectious encephalitis ORPHA:447788
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Diarrhea, Rhabdomyolysis, Hypermagnesemia, Gout, ... ORPHA:358
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Gastrointesti... ORPHA:286
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis ORPHA:2785
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr... OMIM:137920
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Radial deviation of the 3rd finger, Co... OMIM:149730
17Q11 Microdeletion Syndrome
Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Gastrointestinal stroma tumor, Abnormal lung mo... ORPHA:97685
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Elevated hepatic transaminase, Central hypoventilation, Accelerate... ORPHA:293987
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Constipation, Aspiration pneumonia, Dysphagia ORPHA:99027
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Flexion contracture, Hip di... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Flexion contracture, Hip di... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Flexion contracture, Hip di... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Flexion contracture, Hip di... ORPHA:220386
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Apnea, Hypopnea, Chronic constipation, Restrictive... OMIM:619482
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom... ORPHA:91500
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Achalasia, Distic... ORPHA:91416
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Cherubism
Jaw swelling, Dental malocclusion, Narrow palate, Lower eyelid retraction, Multiple impacted teet... OMIM:118400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Decreased circulating IgG level, Secretory IgA defi... ORPHA:500150
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Patent ductus arteriosus, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Patent ductus arteriosus, Decreased circulating antibody level ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Liver - MPATH pathological process term hyperplasia Sh3bp2tm1b(KOMP)Wtsi HOM Early adult
Spleen - MPATH pathological process term hyperplasia Sh3bp2tm1b(KOMP)Wtsi HOM Early adult
Tibia - MPATH pathological process term developmental dysplasia Sh3bp2tm1b(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) Sh3bp2tm1a(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
Sh3bp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sh3bp2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Sh3bp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sh3bp2tm45066(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sh3bp2tm45066(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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