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Gene: Mmp9 MGI:97011

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Gene Summary

Name:
matrix metallopeptidase 9
Synonyms:
B/MMP9,  MMP-9,  gelatinase B,  Clg4b,  Gelatinase B,  Gel B

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
short tibia Mmp9tm1b(EUCOMM)Wtsi HOM Early adult 1.05×10-34

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Mmp9 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 Mmp9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073

The table below shows human diseases predicted to be associated to Mmp9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Intermittent Hydrarthrosis
Joint swelling, Chondrocalcinosis, Abnormality of the knee, Knee joint hypermobility ORPHA:329967
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Sinding-Larsen-Johansson Disease
Osteochondrosis, Joint swelling, Limitation of knee mobility, Painless fractures due to injury ORPHA:97337
Panner Disease
Limited elbow extension, Limited elbow movement, Osteochondrosis, Stiff elbow, Irregular articula... ORPHA:97336
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Joint swelling, Chond... ORPHA:1416
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Immunodeficiency 15B
Chronic oral candidiasis, Recurrent infections, Decreased circulating antibody level, Agammaglobu... OMIM:615592
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Pancytopenia, Lymphocytos... OMIM:614470
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Epiphyseal dyspl... ORPHA:79106
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Polyarticular arthritis, Arthr... ORPHA:85435
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased circ... OMIM:619281
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str... ORPHA:564003
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem... OMIM:619632
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:607634
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Recurrent bronchitis, Nephritis, Autoimmunity OMIM:216950
Tibial Hemimelia
Absent tibia OMIM:275220
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Abnormal natural killer cell count, Abnormal proportion of CD8-positive... OMIM:212050
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the... ORPHA:566943
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Osteochondritis Dissecans
Limited elbow extension, Limitation of joint mobility, Decreased hip abduction, Joint stiffness, ... ORPHA:2764
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Dense metaphyseal bands, Metaphyseal dysplasia OMIM:615198
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Talo-Patello-Scaphoid Osteolysis
Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaphoids ORPHA:50809
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Glycoprotein Storage Disease
Gout OMIM:232900
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Immunodeficiency 11A
Decreased circulating antibody level, Agammaglobulinemia, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Immunodeficiency 32B
Anemia, Recurrent infections, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circulating IgG ... OMIM:226990
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Cranio-Osteoarthropathy
Arthritis, Eczematoid dermatitis, Joint stiffness, Osteoarthritis, Abnormality of the knee, Joint... ORPHA:1525
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ... ORPHA:217390
Congenital Atransferrinemia
Recurrent infections, Arthritis ORPHA:1195
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormality of the wrist, Synovial lining hyperplasia, Polyarticular arth... ORPHA:66627
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Arthritis, Chondritis, Abnormal tarsal ossification,... ORPHA:563991
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized ... ORPHA:3416
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ... OMIM:618282
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Reduced antigen-specific T cell prolifer... ORPHA:331206
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis... OMIM:243700
Systemic-Onset Juvenile Idiopathic Arthritis
Arthritis, Skin rash, Pleural effusion, Pericarditis, Anterior uveitis, Joint swelling, Autoimmun... ORPHA:85414
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic m... ORPHA:98813
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ... ORPHA:3152
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Recurrent infections, Splenomegaly OMIM:606445
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... OMIM:615615
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... ORPHA:2114
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Immunodeficiency 48
Recurrent candida infections, Impaired lymphocyte transformation with phytohemagglutinin, Panhypo... OMIM:269840
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency 62
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c... OMIM:618459
Farber Lipogranulomatosis
Osteolytic defects of the phalanges of the hand, Limitation of knee mobility, Hyperextensibility ... OMIM:228000
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Polyarticular arthritis, Rheumatoid factor positi... OMIM:180300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell m... OMIM:616911
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Hip osteoarthritis... OMIM:105835
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Short low... ORPHA:2501
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif... ORPHA:750
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Recurrent infections, Decreas... OMIM:617514
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Recurrent ... ORPHA:486
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections, Sepsis ORPHA:36237
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal... OMIM:618728
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Immunodeficiency 114, Folate-Responsive
Recurrent lower respiratory tract infections, Megaloblastic anemia, Increased circulating IgE lev... OMIM:620603
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Sepsis, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased ... OMIM:602450
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor... OMIM:226900
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Recurrent respiratory infections, Elevated c... OMIM:620565
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation... ORPHA:911
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Osteoporosis, Joint stiffness, Camptodactyly of finger, Joint swelling, Osteoarthrit... OMIM:208230
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the wrist, Hip osteoarthritis, Synovial lining hyperplasia, Knee o... ORPHA:85408
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... ORPHA:75508
Netherton Syndrome
Sepsis, Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circu... OMIM:256500
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent respirat... OMIM:300853
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent fractures, Decr... OMIM:259710
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Recurrent respiratory infections, T l... OMIM:619510
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Malar rash... OMIM:603909
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... OMIM:102700
Spondylometaphyseal Dysplasia, Corner Fracture Type
Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,... OMIM:184255
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent infections, Agammaglobulinemia, E... OMIM:615214
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Psoriasiform dermatitis, Decreased CD4:CD8 ratio, Decreased lymphocyte prolife... OMIM:606367
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthritis, Arthropathy, Wrist flexion contracture, Generalized morni... OMIM:208250
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... OMIM:616871
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Increased bone minera... OMIM:259700
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Recurrent pharyngitis, Pancytopenia, Lym... OMIM:308240
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... ORPHA:90650
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Congenital Enterovirus Infection
Myocarditis, Sepsis, Anemia, Abnormal macrophage morphology, Skin rash, Cardiomyopathy, Hypotensi... ORPHA:292
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... ORPHA:79445
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level OMIM:270300
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr... OMIM:613500
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Elevated circulating creatinine concentr... ORPHA:36234
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Chronic mucocutaneou... OMIM:615816
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Limb undergrowth, Abnormal limb bone morphology, Abnormal cortica... ORPHA:2204
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Micrognathia, Metaphyseal wide... ORPHA:440354
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... OMIM:602080
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circ... ORPHA:90045
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis, Lower limb asymmetry OMIM:166700
Familial Afibrinogenemia
Joint swelling ORPHA:98880
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormal circulating cytokine concentration, Myocardial infarction, Angina pectoris,... ORPHA:464343
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Majeed Syndrome
Skin rash, Inflammatory abnormality of the skin, Flexion contracture, Joint swelling, Osteomyelitis OMIM:609628
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Ecze... OMIM:304790
Mucopolysaccharidosis, Type Ix
Recurrent otitis media, Acetabular erosions, Hyperextensibility at elbow, Periarticular soft-tiss... OMIM:601492
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... OMIM:609529
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... OMIM:614069
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... OMIM:146000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Recurrent infections, Thrombocytopenia, Splenomegal... OMIM:615285
Q Fever
Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myoca... ORPHA:781
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Recurrent opportunis... OMIM:608971
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Roifman Syndrome
Recurrent otitis media, Decreased circulating antibody level, Eczematoid dermatitis, Recurrent pn... ORPHA:353298
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Recurrent tonsillitis, B lymphocytopenia, Arthritis, Decreased circulatin... ORPHA:397596
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Pustule, Recurrent pneumonia, Increased circulating IgE level OMIM:616069
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hemophagocytosis, Recurrent lower respiratory tract i... OMIM:619644
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Genu valgum, Abnormal foot morphology, Reduced bone mineral density, Smal... ORPHA:94068
Legionnaires Disease
Myocarditis, Sepsis, Pancreatitis, Recurrent pharyngitis, Lymphopenia, Hypotension, Hepatitis, Pe... ORPHA:549
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Spina bifida occulta, Increased bone mineral densi... ORPHA:2780
Dracunculiasis
Arthritis, Skin rash, Limitation of joint mobility, Flexion contracture, Recurrent cutaneous absc... ORPHA:231
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Increased inflam... OMIM:209950
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Bronchiolitis obliterans, Neut... OMIM:300755
Gnathodiaphyseal Dysplasia
Diaphyseal cortical sclerosis, Osteopenia, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Osteosarcoma
Pathologic fracture, Joint swelling, Osteolysis ORPHA:668
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Myositis, Arthritis, Skin rash, Elevated circulating creatine ... ORPHA:81
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Skin rash, Elevated circulating creatine kinase ... ORPHA:206569
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, Decreased circulating IgG level, T lymphocyt... OMIM:233650
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Micrognathia, Osteopetrosis, Clinodactyly of the 5th finger OMIM:617306
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Abnormal heart valve morpho... ORPHA:3099
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Immunodeficiency 88
Eosinophilia OMIM:619630
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Macular edema, Sepsis, Normochromic anemia, Skin ... ORPHA:247691
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:600081
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Perinuclear antineutrophil antib... OMIM:614420
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, ... OMIM:619707
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
American Trypanosomiasis
Myocarditis, Congestive heart failure, Skin rash, Cardiomyopathy, Splenomegaly, Arrhythmia, Achal... ORPHA:3386
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Blau Syndrome
Iritis, Flexion contracture of toe, Arthritis, Cystoid macular edema, Synovitis, Eczematoid derma... OMIM:186580
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Genu valgum, Abnormality of the elbow, Polyarticular arthropathy, Limitation of j... ORPHA:1159
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Metaphyseal widening, Erlenmeyer flask deformity of the femu... OMIM:618476
Lyme Disease
Joint swelling, Arthritis, Infectious encephalitis, Uveitis ORPHA:91546
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Malar rash, Arthrit... OMIM:620321
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Oligodactyly, ... OMIM:201170
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased circulating anti... OMIM:300635
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro... ORPHA:2632
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Immunodeficiency 92
Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased proportion of class... OMIM:619652
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Eales Disease
Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating IgG level, Recurrent u... OMIM:618495
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Scrub Typhus
Myocarditis, Skin rash, Hypotension, Splenomegaly, Anterior uveitis, Meningitis, Infectious encep... ORPHA:83317
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... ORPHA:572
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Myositis, Vasculitis, Skin rash, Hypertension, Transient i... ORPHA:183
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Pelviscapular Dysplasia
Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,... ORPHA:93333
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Anemia, Elevated circulating C-reactive pr... ORPHA:829
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Recurrent infections, Skin rash, Increased circulating IgE lev... ORPHA:2314
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Immunodeficiency 43
Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Hypoproteinemia, Decreased circu... OMIM:241600
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Panniculitis, Recurrent lower respiratory tract infections, Dec... OMIM:615758
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt... OMIM:271650
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In... OMIM:618213
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Recurrent sinopul... OMIM:616740
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... OMIM:177170
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Short long... ORPHA:1190
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Central Retinal Vein Occlusion
Retinal neovascularization, Cystoid macular edema, Macular degeneration, Intraretinal hemorrhage,... ORPHA:411527
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Osteopenia, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Recurrent gastroenter... ORPHA:37042
Cinca Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis... OMIM:607115
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Osteopenia, Flat capital femoral epiphysis, Broad femoral neck, F... ORPHA:157965
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... ORPHA:2639
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis OMIM:604864
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Severe Hemophilia A
Limitation of joint mobility, Synovitis, Joint hemorrhage, Limb joint contracture, Joint swelling... ORPHA:169802
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Recurrent infections OMIM:618092
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Cardiac arrest, Interstitial pneumonitis, Pus... ORPHA:139402
Hemophilia A
Abnormality of the elbow, Joint hemorrhage, Joint swelling ORPHA:98878
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Increased circulating interleukin 10 concentration, Pulmonary artery atresia... OMIM:613759
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Panhypogammaglobulinemia, T lymphocytopenia, Recurrent aspiration pn... ORPHA:79124
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Diastrophic Dysplasia
Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Short long bone, Hip contractur... OMIM:222600
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Erlenmeyer flask de... ORPHA:210110
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Decreased circulating antib... OMIM:613101
Brucellosis
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... ORPHA:1304
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Micrognathia, Advanced tar... OMIM:215045
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... ORPHA:628
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Crohn's diseas... OMIM:616100
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Anemia, Myositis, Arthritis, Hypotension, Pericarditis,... ORPHA:3452
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased fibular diamet... OMIM:616897
Moderate Hemophilia A
Arthropathy, Limitation of joint mobility, Synovitis, Hip contracture, Joint hemorrhage, Joint sw... ORPHA:169805
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Leukocytosis, Hypotension, Pericarditis, Arrhythmia ORPHA:188
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi... ORPHA:1860
Lymphoproliferative Syndrome 3
Recurrent infections, Decreased circulating antibody level, Partial absence of specific antibody ... OMIM:618261
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Fifth metacar... OMIM:102370
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Wide distal femoral metaphysis, Arthralgia of the hip, Hip osteoarthritis, Coxa ... ORPHA:99642
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Re... OMIM:612783
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Limited hip extension, Rhizomelia, Ulnar b... OMIM:100800
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Omenn Syndrome
Sepsis, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Splenome... ORPHA:39041
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... ORPHA:93296
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Reactive Arthritis
Recurrent aphthous stomatitis, Arthritis, Recurrent urinary tract infections, Joint stiffness, Pe... ORPHA:29207
Sydenham Chorea
Septic arthritis, Recurrent streptococcus pneumoniae infections, Endocarditis ORPHA:306731
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:241530
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Splenomegaly, Hype... OMIM:615387
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Skin rash, Fulmi... ORPHA:319213
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Aicardi-Goutieres Syndrome 6
Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentration,... OMIM:615010
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Gastritis, Myositis, Arthritis, Skin rash, Xerostomia, J... ORPHA:809
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, Salmonella osteomyelitis, Lymphade... ORPHA:319552
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... OMIM:300299
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Mic... OMIM:613848
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Reduced bone mineral density, Short femoral neck, Brachydac... OMIM:618392
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus OMIM:609939
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Recurrent infections, Decreased circulating antibody level, Lymphopenia, Erythroderma, Eosinophilia OMIM:617425
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent bacterial infections, Rectal abscess,... OMIM:601495
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fused cervical vertebrae, Stomatitis, Skin rash, Pustule, Osteolysis, Joint swelling,... OMIM:612852
Rat-Bite Fever
Myocarditis, Morbilliform rash, Sepsis, Anemia, Pancreatitis, Arthritis, Skin rash, Parotitis, Me... ORPHA:31205
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Shigellosis
Myocarditis, Pneumonia, Sepsis, Acute colitis, Arthritis, Splenic abscess, Leukocytosis, Hypovole... ORPHA:810
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Generalized osteoscl... ORPHA:53
Wilson Disease
Acute hepatitis, Arthritis, Joint swelling, Pathologic fracture, Hepatitis ORPHA:905
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Listeriosis
Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Splenic... ORPHA:533
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating interleukin 6... ORPHA:158061
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Recurr... ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Neutrophilic infiltration of the skin, B l... OMIM:618048
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Erythema nodosum, Di... ORPHA:99827
Kawasaki Disease
Myocarditis, Congestive heart failure, Cheilitis, Recurrent pharyngitis, Elevated circulating C-r... ORPHA:2331
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... ORPHA:2658
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Recurrent respiratory infections, Rheumatoid arthritis, Recurrent sinusit... OMIM:607944
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, H... ORPHA:2070
Netherton Syndrome
Emphysema, Recurrent infections, Skin rash, Decreased circulating antibody level, Increased circu... ORPHA:634
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi... OMIM:251230
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Delayed epiphyseal ossification, Limited knee extension, Osteoarthritis,... OMIM:600969
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Amelia, Foot oligodactyly OMIM:601357
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Sepsis, ... ORPHA:178320
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Hypotension, Hypovolemia, Leuko... ORPHA:31824
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela... ORPHA:93346
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Systemic Sclerosis
Myocarditis, Nail bed telangiectasia, Arthritis, Gastrointestinal telangiectasia, Elevated circul... ORPHA:90291
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Arthritis, Eosinophilia, Fasciitis ORPHA:3165
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Wid... ORPHA:163649
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Ob... ORPHA:99976
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Cystic Echinococcosis
Increased circulating antibody level, Splenic cyst, Peritoneal abscess, Abnormal subpleural morph... ORPHA:400
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:264700
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip dislocation, Fi... ORPHA:1106
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... OMIM:184260
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Simpson-Golabi-Behmel Syndrome, Type 2
Short finger, Recurrent lower respiratory tract infections, High palate, Postaxial hand polydacty... OMIM:300209
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hand metaphysis morphology, Joint stiffness, Abnormal metacarpophalangeal joint morpholo... ORPHA:166011
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:277440
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Leukocytosis, Sple... OMIM:618042
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Reticular Dysgenesis
Chronic otitis media, Sepsis, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia... ORPHA:33355
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Pachydermoperiostosis
Acne, Seborrheic dermatitis, Arthritis, Limitation of joint mobility, Osteoporosis, Eczematoid de... ORPHA:2796
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Recurrent lower respiratory tract infections, Cholangitis, Panhypogammaglobulinemia,... OMIM:209920
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Arthritis, Sterile arthritis, Elbow flexion contracture, Cystic acne, Knee flexion contract... OMIM:604416
Laron Syndrome
Short long bone, Limb undergrowth OMIM:262500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal OMIM:113301
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hip subluxation, Osteopetrosis, Flared metaphysis, Increased bone mineral d... OMIM:259720
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Roifman Syndrome
Recurrent otitis media, Eczematoid dermatitis, Recurrent pneumonia, Splenomegaly, Eosinophilia OMIM:616651
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Splenomegaly, Re... OMIM:620210
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Agammaglobulinemia, Sin... ORPHA:33110
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, T lymphocytopenia, Sinusitis, Increased circulating IgM level, Bronchiectasis, Reduced... OMIM:242860
Desmosterolosis
Osteopetrosis, Talipes, Increased bone mineral density, Micromelia, Metatarsus adductus, Microgna... ORPHA:35107
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Sepsis, Hemophagocytosis, Pancytopenia, Recurrent infections, ... OMIM:615122
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Pulmonary artery s... OMIM:617237
Farber Disease
Abnormality of the wrist, Hydrops fetalis, Arthritis, Ascites, Osteoporosis, Joint swelling, Flex... ORPHA:333
Vertical Talus, Congenital
Arthritis OMIM:192950
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Coarse... ORPHA:1782
Felty Syndrome
Chronic otitis media, Sepsis, Recurrent pharyngitis, Recurrent infections, Arthritis, Recurrent u... ORPHA:47612
Cyclic Neutropenia
Perianal abscess, Sepsis, Recurrent tonsillitis, Periodontitis, Lymphopenia, Tooth abscess, Sinus... ORPHA:2686
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Recurrent viral infections, Hepatosplenomegaly, Colonic eosinophilia, Eosinoph... OMIM:618999
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Short long bone, Femoral bowing, Metaphyseal spurs, Fra... OMIM:618188
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyperkalemia, Increased circulating interleukin 6 concentration, Pancreatitis, Hypoc... ORPHA:544482
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Retinal arterial occlusion,... ORPHA:73263
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio... OMIM:615518
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Rhini... ORPHA:507
Congenital Syphilis
Myocarditis, Optic atrophy, Anemia, Pancreatitis, Chorioretinitis, Synovitis, Rhinitis, Thrombocy... ORPHA:499009
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule, Increased circulating IgE level OMIM:614328
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosple... OMIM:612541
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Melorheostosis
Increased bone mineral density, Arthritis, Lymphedema, Ectopic ossification in muscle tissue, Joi... ORPHA:2485
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Skin rash, Synovitis, Serositis, Glomerulonephritis ORPHA:567544
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... OMIM:617780
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Recurren... OMIM:619774
Craniometaphyseal Dysplasia, Autosomal Dominant
Cranial hyperostosis, Calvarial osteosclerosis, Flared metaphysis, Abnormal pelvic girdle bone mo... OMIM:123000
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy... OMIM:251450
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Increased circulating interleukin 6 concentrat... OMIM:620514
Drug-Induced Lupus Erythematosus
Decreased circulating complement C3 concentration, Anemia, Elevated circulating C-reactive protei... ORPHA:231111
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Arthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Antinucl... ORPHA:85410
Pneumocystosis
Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ... ORPHA:723
Igg4-Related Pachymeningitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Re... ORPHA:449427
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthritis, Arthropathy, Osteoporosis, Joint stiffness, Joint swelling, Stiff interphalangeal joints ORPHA:465508
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho... OMIM:250420
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Joint hypermobility, Short long bone, Knee dislocation, Adducted thumb, Advanced... OMIM:620269
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of neutr... ORPHA:542592
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Anemia, Acute myeloid leukemia, Hemophagocytosis, P... ORPHA:158057
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Microsporidiosis
Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis, Pneumonia, Osteomyeli... ORPHA:2552
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Disloc... OMIM:614856
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopu... OMIM:242700
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Whim Syndrome
Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph... ORPHA:51636
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Increased circulating interleukin 6 concentration, Pancreatitis, Abnorma... ORPHA:70578
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb und... OMIM:618961
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Small epiphyses, Joint hypermobility, Short long bone, Knee dislocation, Hip contrac... OMIM:618363
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurrent mycobacteri... OMIM:615978
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Sjogren Syndrome
Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis, Autoimmunity, Tubulointerstitial ne... OMIM:270150
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Pes planus, Short 5th metacarpal, ... OMIM:619638
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... OMIM:112250
Chikungunya
Maculopapular exanthema, Pedal edema, Arthritis, Skin rash, Synovitis, Joint stiffness, Crusting ... ORPHA:324625
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
X-Linked Hypophosphatemia
Rickets, Genu valgum, Reduced bone mineral density, Vertebral hyperostosis, Craniosynostosis, Gen... ORPHA:89936
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation OMIM:130020
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Hypocystinemia, Decreased circulating antibody leve... OMIM:617744
Sweet Syndrome
Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, Myosit... ORPHA:3243
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Increased circulating inte... ORPHA:540
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... ORPHA:449395
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Dysosteosclerosis
Diaphyseal undertubulation, Osteopenia, Clavicular sclerosis, Abnormal metaphyseal trabeculation,... OMIM:224300
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Bowing of the long b... ORPHA:667
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Esophagitis, Hypertrophic ca... ORPHA:3342
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... OMIM:307800
Acrocephalopolydactyly
Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Atopic dermatitis OMIM:619074
Stuve-Wiedemann Syndrome 2
Short long bone, Bowing of the long bones, Camptodactyly OMIM:619751
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Contracture of the proximal ... OMIM:130060
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti... OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, A... ORPHA:83471
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Antinuclear antibody positivity, Crescentic glomerulonephritis OMIM:616414
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Wells Syndrome
Eosinophilia ORPHA:901
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan... OMIM:180870
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... OMIM:190351
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of join... OMIM:151200
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox... OMIM:616716
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Pseudopseudohypoparathyroidism
Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly OMIM:612463
Kikuchi-Fujimoto Disease
Myocarditis, Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Vascul... ORPHA:50918
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia, Chilblains OMIM:612952
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating antibody level, Cholangitis, Increased circulating IgG level, ... ORPHA:449432
Von Hippel-Lindau Disease
Myocarditis, Retinal detachment, Retinal capillary hemangioma, Hypertension, Cardiomyopathy, Poly... ORPHA:892
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Lead Poisoning
Abnormal T cell morphology, Anemia, Skin rash, Increased circulating IgE level, Abnormality of hu... ORPHA:330015
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Papa Syndrome
Myositis, Arthritis, Crohn's disease, Limitation of joint mobility, Pustule, Acne, Increased infl... ORPHA:69126
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Pes cavus, Coxa valga, Coronal craniosynostosis OMIM:616943
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis ORPHA:2762
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Premature osteoarthritis OMIM:165800
Insulin Autoimmune Syndrome
Autoimmunity, Arthralgia/arthritis, Autoimmune antibody positivity, Systemic lupus erythematosus ORPHA:411593
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Recurrent respiratory infections, Recurrent bronchitis, Decrease... ORPHA:1572
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, CNS demyelination, A... ORPHA:217260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Recurrent infections, B lym... OMIM:150550
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Splayed epiphyses, Abnormal cartilage collagen, Delayed epiphyseal... OMIM:156550
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... OMIM:607143
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Decreased c... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi... ORPHA:93352
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of cla... OMIM:619126
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Pfapa Syndrome
Arthritis, Recurrent pharyngitis, Infectious encephalitis ORPHA:42642
Epiphyseal Dysplasia, Multiple, 6
Osteoarthritis, Abnormality of the knee OMIM:614135
Interstitial Lung Disease 2
Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil proportion... OMIM:178500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Skin rash, Panniculitis OMIM:617099
Fibrochondrogenesis 2
Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Hypop... OMIM:614524
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Omodysplasia 1
Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ... OMIM:258315
Stickler Syndrome, Type Iv
Genu valgum, Flat capital femoral epiphysis, Hypoplastic iliac wing, Short metacarpal, Coxa vara,... OMIM:614134
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilic infiltration of t... OMIM:615508
Simple Cryoglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Monoclonal elevation of IgG, Chronic lymph... ORPHA:91139
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Recurrent respiratory infections, Median cleft palate ORPHA:2432
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Sepsis ORPHA:464370
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Angel-Shaped Phalango-Epiphyseal Dysplasia
Joint hypermobility, Hip osteoarthritis ORPHA:63442
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Rheumatoid factor positive, Inflammation of the large intestine, Sacroiliac a... OMIM:106300
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Genu valgum, Abnormality of the ankle, Osteoarthritis,... ORPHA:166002
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, I... OMIM:615934
Dermatomyositis
Myocarditis, Myositis, Vasculitis, Abnormal eosinophil morphology, Sinus tachycardia, Skin rash, ... ORPHA:221
Acute Generalized Exanthematous Pustulosis
Cheilitis, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustule, Neutrophilia, Con... ORPHA:293173
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Alveolar Echinococcosis
Liver abscess, Anemia, Cholangitis, Increased circulating antibody level, Abnormal spleen morphol... ORPHA:284
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Genu valgum, Joint stiffness, Osteoarthritis, Recurrent fractures, Genu varum ORPHA:1822
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive ORPHA:79099
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W... OMIM:617925
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Sepsis, Lymphadenitis OMIM:612260
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Panniculitis, Increased circulating antibody level, Myositis, Arthritis, Skin rash, Recur... OMIM:617591
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Short long bone, Short ribs, Bowing of the l... OMIM:224400
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... ORPHA:1540
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid dermatitis, Gran... OMIM:618935
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Good Syndrome
Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infections, Decreased circulating ... ORPHA:169105
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Bowing of the long bones, Osteoporosis, Lateral femor... OMIM:239000
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Skin rash, Pleural empyema,... OMIM:147060
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, Z-band streaming, EMG: myopathic abnor... OMIM:619178
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Gastritis, Recurrent infections, Crohn's dis... OMIM:619381
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low... ORPHA:314795
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Rhyns Syndrome
Osteopenia, Short long bone, Osteoporosis, Radial bowing, Brachydactyly, Short femoral neck OMIM:602152
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion, Metatarsus a... OMIM:620494
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Limitation of joint mobility... OMIM:609162
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent infections, Bronchiectas... OMIM:615207
Bruck Syndrome 2
Osteopenia, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexion contract... OMIM:609220
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Femoral bowing, Recurrent fractures, Osteoporosis OMIM:126550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Joint hypermobility, Dislocated radial head, Dela... OMIM:618395
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus ORPHA:399180
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Osteomalacia, Tibial bowing,... ORPHA:289157
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Dysspondyloenchondromatosis
Genu valgum, Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint hypermobility ORPHA:85198
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short long bone, Talipes equinovarus, Vertebral fusion OMIM:618845
Roifman-Chitayat Syndrome
Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Cone-shaped epiphysis OMIM:613328
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Pseudoleprechaunism Syndrome, Patterson Type
Joint swelling, Flat acetabular roof, Genu valgum, Delayed pubic bone ossification ORPHA:2976
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep... OMIM:602875
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, B lymphocytopenia, Optic neuritis, Decreased circu... OMIM:301081
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Sepsis, Elevated circulating C-reactive protein concentrati... ORPHA:36238
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Epistaxis, Recurrent aphthous stomatitis, Hyposegmentation of neu... OMIM:260570
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Recurrent bac... OMIM:619693
Scedosporiosis
Unusual skin infection, Sepsis, Opportunistic fungal infection, Invasive fungal infection, Sinusi... ORPHA:449280
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Bicuspid aortic valve, Decreased... OMIM:182410
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Acrodysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ... ORPHA:950
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Hypertension, Cardiomyopathy, Pericarditis... ORPHA:767
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Th... ORPHA:449563
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hyp... OMIM:151210
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Bowing of the long bones, Microme... ORPHA:1798
Ebola Hemorrhagic Fever
Sepsis, Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, L... ORPHA:319218
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Tibial bowing, Decreased calvarial ossification, Multi... OMIM:259420
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Generalized osteoporosis, Short palm, Short femoral neck, Pes planus, Small joint hy... OMIM:184095
Achalasia, Familial Esophageal
Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:200400
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Osteogenesis Imperfecta, Type Viii
Osteopenia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Tibial bowing, Femor... OMIM:610915
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Reduced antigen-specific ... OMIM:616433
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Tapered phalanx of finger, Small epiphyses, Single interphalangeal crease... OMIM:611717
Lesch-Nyhan Syndrome
Gout ORPHA:510
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Flared metaphysis, Delayed epiphyseal ossification, Short ribs, Cen... OMIM:602557
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-... ORPHA:85451
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel... ORPHA:15
Prolidase Deficiency
Anemia, Increased circulating antibody level, Recurrent infections, Eczematoid dermatitis, Recurr... OMIM:170100
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral... OMIM:215150
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Heme Oxygenase 1 Deficiency
Sepsis, Increased circulating ferritin concentration, Increased circulating interleukin 6 concent... OMIM:614034
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased circulating complement C3 concentration ORPHA:79087
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Boutonneuse Fever
Increased circulating IgG level, Skin rash, Increased circulating IgM level, Thrombocytopenia, Le... ORPHA:83313
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Metaphyseal cupping, Increased bone mineral density, Short ribs, S... ORPHA:50945
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Camptodacty... ORPHA:2848
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Finger clinodactyly ORPHA:3352
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ... OMIM:156400
Blau Syndrome
Polyarticular arthritis, Xerostomia, Skin rash, Posterior uveitis, Limitation of joint mobility, ... ORPHA:90340
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... ORPHA:98848
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced ossification... OMIM:614613
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Eosinoph... OMIM:158310
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Lymphopenia, Bone marrow hypocellularity, Pul... OMIM:619767
Pelizaeus-Merzbacher Disease
Optic atrophy, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Re... OMIM:312080
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Decreased circulating IgA level, Recurren... OMIM:137100
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Decreased proportion of CD4-positive T cells, Recurrent infections ORPHA:477814
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Kniest Dysplasia
Fused cervical vertebrae, Enlarged metaphyses, Abnormal cartilage collagen, Delayed epiphyseal os... ORPHA:485
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Inflammatory abnormality of the eye, Arthritis, Skin rash, Pleural effusion, A... ORPHA:36412
Erdheim-Chester Disease
Increased bone mineral density, Skin rash, Pleural effusion, Osteolysis, Joint swelling, Osteomye... ORPHA:35687
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypertension, Myocardial infarction OMIM:608320
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Joint hypermobi... OMIM:617952
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Achondrogenesis, Type Ii
Short tubular bones of the hand, Abnormal foot morphology, Hypoplastic iliac wing, Short long bon... OMIM:200610
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ... OMIM:166210
Hypochondroplasia
Abnormality of the elbow, Joint hypermobility, Osteoarthritis, Genu varum ORPHA:429
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Joint hypermobility, Short clavicles, Short long bone, Flat acetabula... OMIM:615777
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Acne, Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Osteomy... ORPHA:324964
Majeed Syndrome
Increased bone mineral density, Synovitis, Flexion contracture, Metaphyseal irregularity, Osteomy... ORPHA:77297
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Pancreatitis, Cholangitis, Arthritis, Pleural effusion, Eczematoid dermatitis, An... ORPHA:3260
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Conjunctiviti... ORPHA:47
Pycnodysostosis
Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of ... OMIM:265800
Sapho Syndrome
Acne, Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammation of the larg... ORPHA:793
Intellectual Developmental Disorder, Autosomal Dominant 53
Joint hypermobility, Short femur, Genu valgum OMIM:617798
Schneckenbecken Dysplasia
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Bi... OMIM:269250
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Abnormality of the lower lim... ORPHA:1652
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal cupping, Short long ... OMIM:613320
Alkaptonuria
Reduced bone mineral density, Prostatitis, Joint dislocation, Arthritis, Joint stiffness, Osteoar... ORPHA:56
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Familial Cold Urticaria
Arthritis, Dehydration, Conjunctivitis ORPHA:47045
Xylt1-Cdg
Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Joint hyper... ORPHA:370930
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Hyper-Igd Syndrome
Chronic oral candidiasis, Recurrent infections, Arthritis, Skin rash, Increased circulating IgA l... OMIM:260920
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Uveitis, Conjunctivitis OMIM:120100
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Increased circulating Ig... ORPHA:284227
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, F... OMIM:616723
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Short 4th metacarpal, Genu valgum, Rhizomelia, Knee flexion contracture,... OMIM:618019
Bloom Syndrome
Cheilitis, Bronchitis, Skin rash, Acute myeloid leukemia, Recurrent tonsillitis, Decreased circul... ORPHA:125
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... ORPHA:85167
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atelis Syndrome 1
Anemia, Recurrent infections, Eczematoid dermatitis, Thrombocytopenia, Leukopenia, Bronchiectasis... OMIM:620184
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo... ORPHA:140
Aicardi-Goutieres Syndrome 9
Optic atrophy, Anemia, Increased blood pressure, Recurrent urinary tract infections, Chorioretina... OMIM:619487
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Vasculitis, Skin rash, Arthr... ORPHA:727
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Autoimmune Hepatitis
Anti-smooth muscle antibody positivity, Sclerosing cholangitis, Anti-liver cytosolic antigen type... ORPHA:2137
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Microlissencephaly
Pneumonia ORPHA:1083
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Gout OMIM:617056
Idiopathic Achalasia
Bronchitis, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia ORPHA:930
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior... OMIM:619135
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgG, Decreased lymphocyte proliferation in ... ORPHA:221139
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Maculopapular exan... ORPHA:98850
Yao Syndrome
Arthritis, Skin rash, Xerostomia, Pericarditis, Inflammatory abnormality of the skin, Keratoconju... OMIM:617321
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphyses, Increase... ORPHA:94089
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Camurati-Engelmann Disease
Genu valgum, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bo... OMIM:131300
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... ORPHA:90652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post... OMIM:263520
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte ... ORPHA:293978
Myeloma, Multiple
Paraproteinemia OMIM:254500
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ... OMIM:616145
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Panniculitis, Anemia, Elevated circulating C-r... OMIM:608068
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal a... OMIM:613470
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... ORPHA:96334
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Myositis, Vasculiti... ORPHA:32960
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Painless fractures due to injury, Osteoarthritis, Septic arthritis, Recurrent fractu... OMIM:608654
Pycnodysostosis
Short finger, Rhizomelia, Increased bone mineral density, Hypoplastic iliac wing, Osteolytic defe... ORPHA:763
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul... ORPHA:48435
Zika Virus Disease
Ankle swelling, Wrist swelling, Myelitis, Arthritis, Skin rash, Infectious encephalitis, Conjunct... ORPHA:448237
Avian Influenza
Pneumothorax, Sepsis, Myelitis, Elevated circulating C-reactive protein concentration, Lymphopeni... ORPHA:454836
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Wide anterior fontanel, Short long bone, Decreased skull ossificati... OMIM:263210
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short long bone, Sh... ORPHA:3003
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Abnormality of the wrist, Polyarticular arthritis, Malar rash, Skin rash, Limitation of j... ORPHA:85436
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Aplasia/hypoplasia involv... ORPHA:221016
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Recurrent Asper... ORPHA:391487
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Intervertebral disk degeneration, Premature osteoarthritis, Decreased hip abduction,... ORPHA:93311
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Calcinosis, Elevated circulating C-reactive protein concentration, A... ORPHA:93672
Tafro Syndrome
Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protei... ORPHA:457077
Monosomy 22
Joint swelling, Seborrheic dermatitis, Contractures of the large joints ORPHA:96123
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Genu valgum, Recurrent respiratory infections, Periodontitis, Ar... ORPHA:534
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Increased susceptibility to fractures, Abnormal bone ossification, Genu valgum, Reduced bone mine... ORPHA:93315
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans OMIM:154800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Gastroesophageal reflux, High palate, EMG: myopathic abnormalities, ... ORPHA:486815
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Limited elbow extension, Distal symphalangism, Clinodactyly of the 5th finger, Ulnar bowing, Flar... OMIM:210720
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Patellar hypoplasia, Meta... ORPHA:221008
Graft Versus Host Disease
Gastrointestinal inflammation, Limited elbow movement, Dupuytren contracture, Inflammatory abnorm... ORPHA:39812
Anti-Glomerular Basement Membrane Disease
Arthritis, Autoimmunity ORPHA:375
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Hypertension, Oligozoospermia, Obesity, Myocardial infarction OMIM:615703
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Spontaneous, recurrent epistaxis, Recurrent bacterial sk... OMIM:214500
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... ORPHA:90363
African Trypanosomiasis
Myocarditis, Congestive heart failure, Iritis, Myelitis, Optic neuritis, Pericarditis, Conjunctiv... ORPHA:3385
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Joint hypermobility, Osteoarthritis, Bronchiectasis OMIM:620080
Fibrochondrogenesis 1
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Clinodactyly of ... OMIM:228520
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Short metacarpal, Osteoporosis, Subcutaneous ossification, Short ... OMIM:103580
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Sepsis, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia, Hepatitis ORPHA:199299
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Pathologic fract... ORPHA:352540
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... ORPHA:2839
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Flared metaphysis, Short long bone, Femoral bowing, Bowing of the lo... OMIM:187600
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Osteopenia, Reduced bone mineral density, Metaphyseal striations, Aplasia... ORPHA:2909
Pediatric Systemic Lupus Erythematosus
Lupus anticoagulant, Antiphospholipid antibody positivity, Malar rash, Arthritis, Skin rash, Disc... ORPHA:93552
Marburg Hemorrhagic Fever
Increased circulating antibody level, Bradycardia, Skin rash, Reticulocytosis, Pericarditis, Hype... ORPHA:99826
Vexas Syndrome
Nasal chondritis, Arteritis, Arthritis, Autoimmune antibody positivity, Inflammatory abnormality ... OMIM:301054
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Anemia, Acute colitis, Leukocytosis, Abnor... ORPHA:67
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia, Colitis OMIM:615190
Periodic Fever, Familial, Autosomal Dominant
Polyarticular arthritis, Myositis, Periorbital edema, Skin rash, Erysipelas, Conjunctivitis, Macu... OMIM:142680
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Obesity, Recurrent pneumonia, Recurrent upper respiratory tract infections OMIM:614962
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Acromesomelic Dysplasia 4
Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ... OMIM:619636
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l... OMIM:208900
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Pustule, Systemic lupus erythematosus ORPHA:48377
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Recurrent otitis media, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular sh... ORPHA:370010
Wild Type Abeta2M Amyloidosis
Arthritis, Arthropathy ORPHA:85446
Melioidosis
Sepsis, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Osteoarthritis, S... ORPHA:31202
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Recurrent infections, Paraproteinemia, Membran... ORPHA:329918
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Recurrent respiratory infections, Gout ORPHA:411543
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Reduced le... ORPHA:45452
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections... OMIM:615577
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Abnormality of the medullary cavi... OMIM:127000
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Anemia, Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Increased cir... OMIM:617303
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent otitis media, Clinodactyly of the 5th finger, Gastroesophageal reflux, 2-3 toe syndacty... ORPHA:589905
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Short metacarpal, Short foot, Hypop... OMIM:614813
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Limit... ORPHA:1865
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Decreased ci... ORPHA:90362
Trichorhinophalangeal Syndrome Type 1
Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, Camptodactyly of finger, Micr... ORPHA:77258
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Flared metaphysis, Increased bone mineral density, Coarse metaphyseal trabecularization, Hip dysp... OMIM:620558
Granulomatosis With Polyangiitis
Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash... ORPHA:900
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein conc... OMIM:610377
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... ORPHA:439822
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Short long bone, Aplasia/Hypoplasia involving the pelvis, Hypopla... ORPHA:163654
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Maculopapular exanthema, Pancytopeni... ORPHA:398124
Nathalie Syndrome
Abnormal EKG OMIM:255990
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Micrognathia, Joint hype... OMIM:300990
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Recurrent respiratory infections, Synostosis of joints ORPHA:61
Hemochromatosis, Type 3
Arthritis OMIM:604250
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thr... ORPHA:158048
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Thrombocytopenia, Splenomegaly, Recurre... ORPHA:169090
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormality of the wrist, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Abnormality of the ... ORPHA:85438
Thrombocytopenia-Absent Radius Syndrome
Anemia, Seborrheic dermatitis, Decreased circulating antibody level, Leukocytosis, Thrombocytopen... OMIM:274000
Al Amyloidosis
Gastrointestinal hemorrhage, Anemia, Increased circulating antibody level, Increased circulating ... ORPHA:85443
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs, Postaxial po... OMIM:615503
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Classical Ehlers-Danlos Syndrome
Osteopenia, Dislocated radial head, Shoulder dislocation, Phalangeal dislocation, Osteoarthritis,... ORPHA:287
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, Leukocytosis, ... OMIM:249100
Adult-Onset Nemaline Myopathy
Mildly elevated creatine kinase, Paraproteinemia ORPHA:171442
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Decreased circulating IgG leve... ORPHA:420741
Stickler Syndrome Type 1
Joint hypermobility, Osteoarthritis ORPHA:90653
Psoriasis 14, Pustular
Cholangitis, Polyarticular arthritis, Pustule, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Warburg-Cinotti Syndrome
Ankle flexion contracture, Osteolytic defects of the phalanges of the hand, Elbow flexion contrac... OMIM:618175
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B... ORPHA:79444
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Short long bone, Dis... OMIM:616007
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Seborrheic dermatitis, Arthropathy, ... OMIM:259100
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... OMIM:271665
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Splenomegaly, Bronchiectasis, Reduced circulating alpha-1-antitrypsin concen... OMIM:613490
Temple Syndrome
Recurrent otitis media, High palate, Short foot, Obesity, Bifid uvula, Cleft palate, Clinodactyly... OMIM:616222
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Dermatoosteolysis, Kirghizian Type
Abnormality of the wrist, Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis ORPHA:1657
Caffey Disease
Increased circulating antibody level ORPHA:1310
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the dis... OMIM:190350
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Rheumatoid arthritis, A... ORPHA:100026
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Arthritis, Osteomyelitis OMIM:619423
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Generalized Pustular Psoriasis
Cheilitis, Sepsis, Arthritis, Palmoplantar pustulosis, Pustule, Erythroderma, Pedal edema, Uveitis ORPHA:247353
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericardial effusion, Pericarditis, Decreased circulating IgG level, Hypoalbumine... OMIM:212065
Immunodeficiency 9
BCGitis, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Recurrent... OMIM:612782
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Behçet Disease
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Retinopathy, Pericarditis, Spleno... ORPHA:117
Lymphatic Filariasis
Circulating immune complexes, Knee osteoarthritis, Lymphadenitis, Abnormal lung morphology, Epidi... ORPHA:2035
Ulnar Hemimelia
Limited elbow extension, Limited elbow movement, Dislocated radial head, Metacarpal synostosis, E... ORPHA:93320
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent lower respiratory tract infections, Joint dislocation, Hyperextensibility of the finger... OMIM:130000
Complement Factor B Deficiency
Recurrent meningococcal disease, Decreased circulating complement factor B concentration, Periton... OMIM:615561
Incontinentia Pigmenti
Leukocytosis, Keratitis, Eosinophilia, Maculopapular exanthema, Uveitis OMIM:308300
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Postaxial hand ... OMIM:615630
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Short long bone, Split hand, Short ribs, Limitation of joint mobility, Ir... OMIM:252600
Summitt Syndrome
Short 4th metacarpal, Tall stature, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl... ORPHA:3210
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Optic atrophy, Patent foramen... ORPHA:505248
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Anemia, Increased circulating antibody level, Pancyto... ORPHA:77259
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Camptodactyly of finger, Conju... ORPHA:575
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Hip dysplasia, Joint hypermobility, Finger joint hypermobility, Recur... OMIM:166200
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Bardet-Biedl Syndrome 22
Polydactyly, Large for gestational age, Obesity, Postaxial foot polydactyly OMIM:617119
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Abno... OMIM:300291
Seckel Syndrome 1
Clinodactyly of the 5th finger, Talipes, Sandal gap, Cone-shaped epiphyses of the phalanges of th... OMIM:210600
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Atelectasis, Recurr... OMIM:306400
Giant Cell Arteritis
Optic atrophy, Recurrent pharyngitis, Vasculitis, Arthritis, Cerebral ischemia, Double outlet rig... ORPHA:397
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Short ribs, Microme... OMIM:614091
Acromegaly
Joint swelling, Palpebral edema, Osteoarthritis, Acne ORPHA:963
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Bronchitis, Optic neuritis, Leukopenia... ORPHA:289390
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, Short palm, Short ... OMIM:166250
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Osteopetrosis, Recurrent fractures ORPHA:2785
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Anti-dsDNA antibody positivity, Arthritis, Skin rash, Recurrent infe... ORPHA:1855
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens... ORPHA:79443
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short femur, Short humerus, Flexion contracture ORPHA:17
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia ORPHA:1237
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Leptospirosis
Hyperproteinemia, Optic neuritis, Skin rash, Chorioretinitis, Meningitis, Hypotension, Retinal he... ORPHA:509
Sarcoidosis
Pneumothorax, Anemia, Keratoconjunctivitis sicca, Maculopapular exanthema, Emphysema, Chylothorax... ORPHA:797
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98853
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly OMIM:612462
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Short palm, Micrognathia, Short foot, Small hand OMIM:241410
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving bones of the lower limbs, Osteolys... ORPHA:371428
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, High palate, Short foot, Pyloric stenosis, Obesity, Bifid uvula, Cleft pa... ORPHA:96184
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hypertension, Obesity ORPHA:71529
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormal myelination ORPHA:431329
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Pes planus, Pes valgus, Clinodactyly of the 5th finger, Talipes, Spina bifida... ORPHA:508488
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Somatomammotropinoma
Joint swelling, Palpebral edema, Osteoarthritis ORPHA:314769
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol... OMIM:617718
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367
Adiposis Dolorosa
Arthritis, Autoimmunity, Recurrent skin infections, Xerostomia ORPHA:36397
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Multiple joint dislocation, Recurrent otitis media, Hip subluxation, Hypere... OMIM:619503
Incontinentia Pigmenti
Skin rash, Keratitis, Eosinophilia, Infectious encephalitis, Uveitis ORPHA:464
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Hypoplastic iliac wing, Short long bone, Postaxial hand polydac... OMIM:225500
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection... OMIM:610910
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Schwartz-Jampel Syndrome
Flexion contracture of toe, Abnormally ossified vertebrae, Wrist flexion contracture, Joint stiff... ORPHA:800
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Nail-Patella Syndrome
Reduced bone mineral density, Dislocated radial head, Contracture of the distal interphalangeal j... ORPHA:2614
Nocardiosis
Scleritis, Sepsis, Liver abscess, Abnormal heart valve morphology, Thyroiditis, Chorioretinitis, ... ORPHA:31204
Hereditary Xanthinuria
Rheumatoid arthritis, Recurrent urinary tract infections, Arthropathy, Gout ORPHA:3467
Sponastrime Dysplasia
Short long bone, Mesomelia, Metaphyseal irregularity, Joint hypermobility, Flattened humeral epip... ORPHA:93357
Geleophysic Dysplasia 1
Osteopenia, Short long bone, Short foot, Wrist flexion contracture, Irregular capital femoral epi... OMIM:231050
Reynolds Syndrome
Keratoconjunctivitis sicca, Arthritis, Skin rash, Xerostomia, Ascites, Infectious encephalitis ORPHA:779
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Obesity, Overweight, Mitral regurgitation OMIM:614651
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... ORPHA:2769
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Generalized joint hypermobility, Multiple joint dislocation, Genu valgum, Hip subluxation, Delaye... ORPHA:93360
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Cousin Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Rhizomelia, Disloca... OMIM:260660
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Elevated circulating creatine kinase concentration, Arr... OMIM:310200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protei... OMIM:620376
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Rhizomelia, Short long bone, Camptodactyly, Broad femoral neck, Hypoplasia of the cap... OMIM:611209
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Autoimmunity, Antinuclear antibody positivity, S... ORPHA:79480
Familial Mediterranean Fever
Pancreatitis, Vasculitis, Skin rash, Arthritis, Leukocytosis, Pericarditis, Erysipelas, Splenomeg... ORPHA:342
Overlap Myositis
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis, Antinuclear antibod... ORPHA:206572
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli... OMIM:259775
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... OMIM:114290
Behcet Syndrome
Iritis, Arthritis, Epididymitis, Iridocyclitis, Erythema nodosum OMIM:109650
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Tibial bowing, Femoral bowing, Osteoporosis,... OMIM:231070
Werner Syndrome
Rocker bottom foot, Increased bone mineral density, Osteoporosis, Joint stiffness, Small hand ORPHA:902
Laron Syndrome
Abnormality of the elbow, Osteoarthritis ORPHA:633
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of hand bone, Sclerosis of foot bone, Scler... ORPHA:2905
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Short long bone, Joint stiffness, ... OMIM:619184
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Recurrent infections, Chronic neutropenia, Neut... OMIM:258360
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Increased body mass index OMIM:614450
Takayasu Arteritis
Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye ORPHA:3287
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pul... ORPHA:1600
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Myelitis, Elevated circulating C-reactive protein co... ORPHA:297
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... OMIM:200980
Ciliary Dyskinesia, Primary, 14
Polysplenia, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections,... OMIM:613807
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph... OMIM:614162
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec... OMIM:251260
Opsismodysplasia
Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Flat acetabular roof, S... OMIM:258480
Dyssegmental Dysplasia, Silverman-Handmaker Type
Short long bone, Bowing of the long bones, Micromelia, Micrognathia, Talipes equinovarus OMIM:224410
Kid Syndrome
Recurrent candida infections, Sepsis, Delayed pubic bone ossification, Patellar hypoplasia, Knee ... ORPHA:477
Myotonic Dystrophy 2
Decreased circulating total IgM, Right bundle branch block, Elevated circulating creatine kinase ... OMIM:602668
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Recurrent infection of the gastrointestinal tract, Decreased ... ORPHA:51890
Lethal Congenital Contracture Syndrome 10
Stiff neck, Short long bone, Femoral bowing, Micrognathia, Adducted thumb, Overlapping fingers, T... OMIM:617022
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Aspiration pneumonia ORPHA:90117
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Recurrent infectio... OMIM:613327
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Acne ORPHA:77296
Aicardi-Goutieres Syndrome 7
Anemia, Recurrent lower respiratory tract infections, Increased circulating antibody level, Pancy... OMIM:615846
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Skin rash, Increased circulating IgA level, Decreased circulatin... ORPHA:2298
Alpha-Mannosidosis, Adult Form
Pancytopenia, Recurrent infections, Hepatosplenomegaly, Pneumonia, Recurrent gastroenteritis ORPHA:309288
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Decreased circulating copper concentration, A... OMIM:300972
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level, Cor pulmonale OMIM:215250
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Recurrent otitis media, Panniculitis, Increase... OMIM:256040
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Asplenia, Bronchiectas... OMIM:244400
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia, Neutropenia OMIM:618253
12Q14 Microdeletion Syndrome
Micrognathia, Clinodactyly of the 5th finger, Osteopoikilosis ORPHA:94063
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis, Autoimmunity, Xerostomia ORPHA:220393
Congenital Analbuminemia
Increased circulating antibody level, Recurrent lower respiratory tract infections, Hypoproteinem... ORPHA:86816
Sanjad-Sakati Syndrome
Micrognathia, Patchy osteosclerosis, Short foot, Small hand ORPHA:2323
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis ORPHA:343
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Recurrent tonsillitis OMIM:619223
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Obesity, Ach... OMIM:615418
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Wide anterior fontanel, Short long bone, Bowing of the long bones,... OMIM:249420
Mirage Syndrome
Sepsis, Anemia, Recurrent urinary tract infections, Aspiration pneumonia, Hypoplastic spleen, Thr... OMIM:617053
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Erythroderma ORPHA:79456
Stickler Syndrome, Type I
Arthritis, Arthropathy, Joint stiffness, Osteoarthritis, Joint hypermobility OMIM:108300
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Cervical C2/C3 vertebral fusion, Shoulder dislocation, Knee dislocation, Osteoporosis... OMIM:618000
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Panc... OMIM:181000
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abno... ORPHA:169189
Multiple Myeloma
Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a... ORPHA:29073
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Tricuspid regurgitation, Obesity, Brachydactyly OMIM:600151
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnormal finger morphology, Larg... ORPHA:2636
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Limited sh... OMIM:203500
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ... OMIM:143095
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... OMIM:269500
Hyperuricemia, Hprt-Related
Podagra OMIM:300323
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Defective pr... OMIM:612132
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Pos... OMIM:304120
Wiedemann-Rautenstrauch Syndrome
Long foot, Talipes equinovarus, Slender long bone, Hypoplastic ilia, Short femur, Long fingers, S... OMIM:264090
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Recurrent infections, Hypoalbuminemia, Neutropenia ORPHA:1667
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Congenital Sialidosis Type 2
Optic atrophy, Yellow/white lesions of the retina, Abnormal heart morphology, Hepatosplenomegaly,... ORPHA:93400
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Anemia, Splenomegaly, Recurrent upper respiratory tract infections OMIM:620296
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Splenomegaly, Polysplenia ORPHA:373
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Recurrent respiratory inf... OMIM:613385
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Lassa Fever
Increased circulating IgM level, Sepsis, Conjunctivitis ORPHA:99824
Mogs-Cdg
Optic atrophy, Decreased circulating antibody level, Decreased circulating IgG level, Hepatosplen... ORPHA:79330
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Anemia, Increased circulating antibody level, Pancyto... ORPHA:77261
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia... ORPHA:980
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Elevated circulating C-reactive protein concentration, Pleural e... ORPHA:79126
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Anemia, Acute tubulointerstitial nephritis, Increased circulating interleukin 6 ... ORPHA:340
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Increased body weight ORPHA:276608
Bloom Syndrome
Malar rash, Decreased circulating IgG level, Elevated hemoglobin A1c, Recurrent upper respiratory... OMIM:210900
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia ORPHA:70587
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Increased circulating antibody level, Aortic regurgitation, Aortic valve c... OMIM:114065
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... ORPHA:244
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Intestinal ... OMIM:603041
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Flared iliac wing, Bullet-shaped phalanges of the hand, Pa... OMIM:252500
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv... ORPHA:70591
Cryoglobulinemic Vasculitis
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis ORPHA:91138
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Wiedemann-Rautenstrauch Syndrome
Osteopenia, 2-3 toe syndactyly, Hypoplastic ilia, Short femur, Thin long bone diaphyses, Synoviti... ORPHA:3455
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Leukocytosis, E... ORPHA:99829
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Emphysema, Increased circulating IgG level, Chronic gast... OMIM:619472
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial pneumonitis, Gr... ORPHA:454831
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Granuloma, Inflammation of the large int... ORPHA:562639
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Recurrent infections, Patent foramen ovale, Pulmonary arterial hyperten... OMIM:620005
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hashimoto thyroidi... ORPHA:589
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Localized Scleroderma
Sclerosis of finger phalanx, Arthritis, Esophagitis, Hashimoto thyroiditis, Flexion contracture, ... ORPHA:90289
Congenital Tufting Enteropathy
Arthritis, Dehydration, Punctate keratitis ORPHA:92050
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Right bundle branch block, Elevated circulating creat... ORPHA:268
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... OMIM:236680
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Astrocytosis, Abnormal blood inorganic cation concentratio... ORPHA:309854
Rift Valley Fever
Anemia, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Thrombocytop... ORPHA:319251
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... OMIM:218330
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Pancreatitis, Increased circulating antibody level, Intraalveolar phosp... ORPHA:470
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:608647
Larsen Syndrome
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Spina bifida occulta, T... OMIM:150250
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, Bone marrow... OMIM:127550
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Antiphospholipid antibody positivity, Xerostomia, Tubulointerstitial nephritis, Rheum... ORPHA:227990
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Scleromyxedema
Abnormal lung morphology, Abnormal pulmonary artery morphology, Elevated circulating creatine kin... ORPHA:167635
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Immunoglobulin A Vasculitis
Arthritis, Skin rash, Episcleritis, Angioedema, Pustule, Orchitis, Edema, Infectious encephalitis ORPHA:761
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Fanconi Anemia, Complementation Group F
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Pneumonia OMIM:603467
Glycogen Storage Disease Vii
Gout OMIM:232800
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iiaa
Short long bone, Knee flexion contracture, Bilateral talipes equinovarus OMIM:620454
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Sepsis, Recurrent aspiration pneumonia ORPHA:204
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Japanese Encephalitis
Pulmonary edema, Increased circulating antibody level, Increased circulating IgM level, Neutrophi... ORPHA:79139
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Antiphospholipid antibody positivity, Xerostomia, Tubulointerstitial nephritis, Rheum... ORPHA:227982
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Clubbing, Hypoplasia of mandible relative to maxilla,... ORPHA:33364
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Bowed humerus, Short long bone, Short humerus, Flexion contracture, Brachydactyly, Trident pelvis OMIM:619479
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing, Flattened femor... ORPHA:79255
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Schinzel-Giedion Midface Retraction Syndrome
Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial hand polydactyly, ... OMIM:269150
Encephalitis Lethargica
Recurrent viral infections, Increased circulating antibody level ORPHA:83600
Timothy Syndrome
Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Reticulocytop... OMIM:275350
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Thymoma
Myositis, Rheumatoid arthritis, Systemic lupus erythematosus, Anti-acetylcholine receptor antibod... ORPHA:99867
Friedreich Ataxia
Optic atrophy, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Systemic Lupus Erythematosus
Cheilitis, Anti-U1 ribonucleoprotein antibody positivity, Malar rash, Arthritis, Discoid lupus ra... ORPHA:536
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Dextrocardia
Situs inversus totalis, Dextrocardia, Abnormal heart morphology, Abnormality of the spleen, T-wav... ORPHA:1666
Desmosterolosis
Rhizomelia, Bilateral talipes equinovarus, Micrognathia, Generalized osteosclerosis, Arthrogrypos... OMIM:602398
Primary Biliary Cholangitis
Gastrointestinal inflammation, Increased circulating IgA level, Onychomycosis, Increased circulat... ORPHA:186
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Obesity, Ventricular fibrillation, Atriov... ORPHA:26793
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Tibial bowing, Osteoporosis, Metaphyseal widening, Joint hypermo... OMIM:259770
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Limitation of joint mobility, Hip osteoarthritis OMIM:313400
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern, Elevated circulating carcinoembryonic antigen c... ORPHA:264675
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Panniculitis, Lupus anticoagulant, Recurrent infections, Arthritis, Skin ... OMIM:615688
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes... OMIM:619297
Short-Rib Thoracic Dysplasia 12
Short finger, Short long bone, Short ribs, Short palm, Broad foot, Short toe, Limb undergrowth, B... OMIM:269860
Hennekam-Beemer Syndrome
Hypotension, Mastocytosis, Vomiting, Telangiectasia of the skin, Arrhythmia, Pneumonia ORPHA:2135
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Recurrent infections, Esophageal varix, Increased body weight, Cardiomyop... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iib
Optic atrophy, Demyelinating peripheral neuropathy, Decreased circulating antibody level, Decreas... OMIM:606056
Smith-Magenis Syndrome
Short palm, Velopharyngeal insufficiency, Increased body weight, Brachydactyly OMIM:182290
Lymphoid Interstitial Pneumonia
Skin rash, Eczematoid dermatitis, Rheumatoid arthritis, Autoimmune antibody positivity, Bronchiec... ORPHA:79128
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
2-3 toe syndactyly, Increased body weight, Broad hallux, Short foot OMIM:300860
Cryptococcosis
Pneumonia, Prostatitis, Sepsis, Pleural effusion, Peritonitis, Lymphoid leukemia, Nodular pattern... ORPHA:1546
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Abcd Syndrome
Total intestinal aganglionosis, Large for gestational age, Aganglionic megacolon OMIM:600501
Gaucher Disease
Abnormal pulmonary interstitial morphology, Anemia, Increased circulating antibody level, Elevate... ORPHA:355
Benign Schwannoma
Abnormal fibula morphology, Intestinal polyposis, Facial palsy, Abnormal esophagus morphology, Al... ORPHA:252164
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormal metacarpal morphology, Ectopic anus, Abnormal fi... ORPHA:3138
Glycogen Storage Disease Ib
Pancreatitis, Osteoporosis, Inflammation of the large intestine, Gout, Recurrent bacterial infect... OMIM:232220
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Hypertension OMIM:615954
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Recurrent infections, Hepatocellular carcinoma, Increased body weight, Li... ORPHA:79240
Orofaciodigital Syndrome Type 4
Finger syndactyly, Split hand, Postaxial hand polydactyly, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Idiopathic Camptocormia
Myositis, Osteoarthritis, Myelitis, Abnormal inflammatory response ORPHA:1320
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Restrictive cardiomyopathy, Abnormal heart morphology, Hypercalcemia, Decre... ORPHA:369837
Cushing Disease
Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne, Recurrent cutaneous fungal infections ORPHA:96253
Dyskeratosis Congenita, Digenic
Anemia, Recurrent infections, Decreased circulating IgG level, Decreased circulating total IgM, D... OMIM:620040
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Anti-smooth muscle antibody positivity, Pedal e... ORPHA:49041
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Pancreatitis, Retinal arterial tortuosity, Abnormal CNS myelination, Splenic... OMIM:620371
Aapoaiv Amyloidosis
Abnormal lung morphology, Paraproteinemia ORPHA:439232
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Insulinoma
Palpitations, Increased body weight, Zollinger-Ellison syndrome ORPHA:97279
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Sotos Syndrome
Narrow palate, High, narrow palate, Tall stature, Genu valgum, Gastroesophageal reflux, Increased... OMIM:117550
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Dopamine Beta-Hydroxylase Deficiency
Anemia, Orthostatic hypotension, Orthostatic syncope, Increased blood urea nitrogen, Rhinitis, Sy... ORPHA:230
Cog1-Cdg
Osteopenia, Rhizomelia, Short long bone, Flat acetabular roof, Micrognathia, Coxa valga, Talipes ... ORPHA:263508
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperam... ORPHA:480864
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Recurrent aphthous stomatitis, Hypocalcemia, Thyroidit... OMIM:212750
Cockayne Syndrome Type 3
Increased blood pressure, Retinal dystrophy, Demyelinating peripheral neuropathy, Astrocytosis, R... ORPHA:90324
Tetrasomy 9P
Abnormal chorioretinal morphology, Glue ear, Dextrocardia, Myositis, Arthritis, Patent foramen ov... ORPHA:3310
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Myositis, Thyroiditis, Increased circulating IgA level, Increased cir... ORPHA:79078
Myhre Syndrome
Short finger, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndactyly, Short long ... OMIM:139210
Plague
Carbuncle, Sepsis, Inflammatory abnormality of the eye, Acute infectious pneumonia, Abnormality o... ORPHA:707
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Atrial septal defect, Allergic rhinitis, Eczematoid dermatitis OMIM:618162
Neuroleptic Malignant Syndrome
Sepsis, Leukocytosis, Aspiration pneumonia, Elevated circulating creatine kinase concentration, T... ORPHA:94093
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Corneal neovascularization, Hypotriglyceridemia, Gliosis, Optic disc pallor, Cone/... ORPHA:404454
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Eczematoid dermatitis, Decreased circulating IgG level, Ac... OMIM:223370
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Recurrent respiratory infections, Infecti... ORPHA:354
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Robinow Syndrome, Autosomal Dominant 1
Radial deviation of finger, Rhizomelia, Duplication of the distal phalanx of hand, Dislocated rad... OMIM:180700
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand OMIM:161700
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Increased body weight ORPHA:263455
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... OMIM:606002
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis ORPHA:1272
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration, Abnormal myelination ORPHA:442835
Loeys-Dietz Syndrome 6
Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee osteoarthri... OMIM:619656
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Pancreatitis, Periodontitis, Thyroiditis, Osteoporosis, Inflammation of the large int... ORPHA:79259
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Short clavicles, Short long bone, Postaxial hand polydactyly, Short ri... OMIM:617088
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Short long bone OMIM:301110
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Inflammation of the large intestine, Recurrent upper respirator... OMIM:232240
Sitosterolemia 1
Arthritis OMIM:210250
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG, Angular cheilitis OMIM:613102
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Recurrent infections, Recurrent urinary tract infections, Hepatosplenomegaly, Otiti... ORPHA:309282
Magel2-Related Prader-Willi-Like Syndrome
Gastroesophageal reflux, Increased body weight, Failure to thrive, Flexion contracture, Abdominal... ORPHA:398069
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Gaucher Disease, Type Ii
Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia, Splenomegaly OMIM:230900
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Abnormal heart morphology, Decreased circulating IgG level,... OMIM:617062
Glycogen Storage Disease Ia
Pancreatitis, Osteoporosis, Gout OMIM:232200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Cysticercosis
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... ORPHA:1560
Phosphoribosylpyrophosphate Synthetase Superactivity
Recurrent infections, Gout OMIM:300661
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Hypertension OMIM:615830
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradial synostosis,... ORPHA:3404
Degcags Syndrome
Pneumonia, Anemia, Iron deficiency anemia, Pancytopenia, Dysplastic pulmonary valve, Hyperbilirub... OMIM:619488
Primary Sclerosing Cholangitis
Pancreatitis, Thyroiditis, Pleural effusion, Ulcerative colitis, Hepatosplenomegaly, Splenomegaly... ORPHA:171
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Granuloma, Sinusitis, Pustule, Respiratory tract infection, Pneum... ORPHA:68
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Congenital finger flexion contractures, Eosinophilic infiltration of ... OMIM:615582
Chronic Graft Versus Host Disease
Recurrent infections, Arthritis, Xerostomia, Pleural effusion, Ascites, Flexion contracture, Bron... ORPHA:99921
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Liver Disease, Severe Congenital
Pulmonary edema, Sepsis, Recurrent otitis media, Anemia, Lymphocytosis, Chronic gastritis, Recurr... OMIM:619991
Spinal Cord Injury
Paralytic ileus, Allodynia ORPHA:90058
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat... ORPHA:3132
Igg4-Related Thyroid Disease
Thyroiditis, Increased circulating IgG4 level, Hashimoto thyroiditis, Sclerosing cholangitis ORPHA:64744
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Williams Syndrome
Osteopenia, Pes planus, Genu valgum, Clinodactyly of the 5th finger, Spina bifida occulta, Increa... ORPHA:904
Ayme-Gripp Syndrome
Pericarditis OMIM:601088
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Small cell lung carcinoma, Decreased eosinophil count, Leukocytosis, Lymphopenia, Recurrent... ORPHA:99889
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Abnormal myelination, Cerebral hypomyelination ORPHA:280210
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Adrenocortical Carcinoma
Palpitations, Increased body weight, Hypertension, Weight loss ORPHA:1501
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Proximal amyotrophy, Abdominal obesity, Increased body weight, Hypertension ORPHA:189427
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal platelet function, Hypertrophic cardiomyopathy, Abnorm... ORPHA:648
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Charge Syndrome
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Hand polyd... OMIM:214800
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Sepsis, Pyoderma, Anemia, Recurrent urinary tract in... ORPHA:79404
Mucopolysaccharidosis Type 2, Severe Form
Recurrent ear infections, Arthritis, Limitation of joint mobility, Camptodactyly of finger, Flexi... ORPHA:217085
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hypermobility, Arthritis ORPHA:93111
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Sepsis, Anemia, Skin rash, Rhinitis, Anterior uveitis, Inflammator... ORPHA:95455
Hereditary Sensory And Autonomic Neuropathy Type 4
Neuropathic arthropathy, Abnormality of lower limb joint, Recurrent Staphylococcus aureus infecti... ORPHA:642
Wilson Disease
Pedal edema, Osteomalacia, Ascites, Osteoporosis, Atypical or prolonged hepatitis, Osteoarthritis... OMIM:277900
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent ear infections, Arthritis, Limitation of joint mobility, Camptodactyly of finger, Flexi... ORPHA:217093
Mucopolysaccharidosis Type 3
Chronic otitis media, Recurrent tonsillitis, Aspiration pneumonia, Respiratory tract infection, R... ORPHA:581
Chops Syndrome
Anomalous pulmonary venous return, Splenomegaly, Aspiration pneumonia OMIM:616368
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections OMIM:253200
Aicardi-Goutières Syndrome
Panniculitis, Myositis, Arthritis, Chilblains, Autoimmunity, Multiple joint contractures ORPHA:51
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Cornelia De Lange Syndrome 1
Pneumonia, Thrombocytopenia, Otitis media OMIM:122470
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Pmm2-Cdg
Angina pectoris, Reduced thyroxin-binding globulin, Photoreceptor layer loss on macular OCT, Hype... ORPHA:79318
Aneurysm-Osteoarthritis Syndrome
Osteochondritis dissecans, Intervertebral disk degeneration, Knee osteoarthritis, Osteoporosis, C... ORPHA:284984
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short... OMIM:181450
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, B lymphocytopenia, Seborrheic dermatitis, Superficial d... ORPHA:83617
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Aspiration pneumonia OMIM:301072
Hunter-Macdonald Syndrome
Cubitus valgus, Delayed cranial suture closure, Camptodactyly, Premature osteoarthritis, Joint co... OMIM:611962
Trigeminal Neuralgia
Allodynia ORPHA:221091
22Q11.2 Deletion Syndrome
Chronic otitis media, Polyhydramnios, Seborrheic dermatitis, Arthritis, Multiple suture craniosyn... ORPHA:567
Fabry Disease
Arthritis, Reduced bone mineral density, Lymphedema ORPHA:324
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia, Micrognathi... ORPHA:444077
Stickler Syndrome
Chronic otitis media, Reduced bone mineral density, Genu valgum, Joint dislocation, Uveitis, Prot... ORPHA:828
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Osteogenesis Imperfecta
Osteopenia, Genu valgum, Reduced bone mineral density, Dislocated radial head, Wormian bones, Fra... ORPHA:666
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis ORPHA:90790
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Recurrent respiratory infections, Keratitis, Tracheobronchial leiomyomatosis ORPHA:1018
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Flexion contracture of digit, Recurrent ear infections, Limitation of joint m... ORPHA:580
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Noonan Syndrome 1
Chylothorax, Lymphedema, Cubitus valgus, Synovitis OMIM:163950
Pudendal Neuralgia
Allodynia ORPHA:60039
Hellp Syndrome
Increased body weight, Cerebral hemorrhage, Hypotension, Internal hemorrhage ORPHA:244242
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia ORPHA:845
Gaisböck Syndrome
Cholecystitis, Gout ORPHA:90041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atopic dermatitis, Mixed demyelinating and axonal polyneuropathy, Abnormality of retinal pigmenta... ORPHA:466768
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Aspartylglucosaminuria
Chronic otitis media, Joint stiffness, Recurrent respiratory infections, Arthritis ORPHA:93
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Recurrent infections due to aspiration ORPHA:70
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections ORPHA:99104
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract infections OMIM:602535
Gitelman Syndrome
Chondrocalcinosis, Pericardial effusion, Hashimoto thyroiditis, Gout, Tubulointerstitial nephritis ORPHA:358
Marfan Syndrome
Limited elbow extension, Genu recurvatum, Camptodactyly, Protrusio acetabuli, Flexion contracture... OMIM:154700
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the wrist, Joint dislocation, Wormian bones, Limitation of joint mobility, Osteoar... ORPHA:285
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Recurrent aspiration pneumonia ORPHA:397715
Loeys-Dietz Syndrome 3
Osteopenia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee... OMIM:613795
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Osteolytic defects of the distal phalanges of the hand, Limitation ... ORPHA:740
Niemann-Pick Disease Type C
Bone-marrow foam cells, Aspiration pneumonia, Abnormal lung morphology, Hepatosplenomegaly, Splen... ORPHA:646
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia ORPHA:99027
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Lacrimoauriculodentodigital Syndrome
Arthritis, Keratoconjunctivitis, Xerostomia, Keratoconjunctivitis sicca ORPHA:2363
Cholera
Aspiration pneumonia ORPHA:173
Coffin-Siris Syndrome
Recurrent infections, Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal pulmonary interstitial morphology, Acute promyelocytic leukemia, Thrombocytopenia, Splen... ORPHA:77293
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia, Elevated circu... ORPHA:280633
Carney Complex
Esophageal neoplasm, Neoplasm of the stomach, Tall stature, Congestive heart failure, Neoplasm of... ORPHA:1359
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Recurrent urinary tract infections, Recurrent aspir... OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent urinary tract infections, Recurrent respiratory infections, Otitis media ORPHA:353281
Kabuki Syndrome 1
Recurrent otitis media, Recurrent infections, Recurrent aspiration pneumonia, Autoimmune thromboc... OMIM:147920
Choreoacanthocytosis
Arthritis ORPHA:2388
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Abnormal myelination, Retinal coloboma ORPHA:434179
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent urinary tract infections, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent urinary tract infections, Recurrent respiratory infections, Otitis media ORPHA:353277
Doors Syndrome
Thrombocytosis, Aspiration pneumonia ORPHA:79500
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Aspiration pneumonia ORPHA:438213
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia OMIM:612289
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Periodontitis, Congenital hip dislocation, Osteoarthritis, Joint hypermobility... ORPHA:286
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340

Histopathology

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

There is no histopathology data for Mmp9

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 Mmp9.

No publications found that use IMPC mice or data for Mmp9.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mmp9tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mmp9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mmp9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Mmp9tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mmp9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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