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Gene: Mmp9 MGI:97011

Gene Summary

Name:

matrix metallopeptidase 9

Synonyms:

B/MMP9, MMP-9, gelatinase B, Clg4b, Gelatinase B, Gel B

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
short tibia		Mmp9^{tm1b(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

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Immunophenotyping

Panel B FCS file(s)

6 Images

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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.

Human diseases associated with Mmp9 (2 diseases)
Human diseases predicted to be associated with Mmp9 (1462 diseases)

The table below shows human diseases associated to Mmp9 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Metaphyseal Anadysplasia		Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Metaphyseal Anadysplasia 2		Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073

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

Disease	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Intermittent Hydrarthrosis	Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis	ORPHA:329967
Popliteal Cyst	Abnormality of the knee, Joint swelling	OMIM:175750
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Drug Metabolism, Poor, Cyp2D6-Related	Neoplasm	OMIM:608902
Adamantinoma Of Long Bones	Neoplasm	OMIM:102660
Cancer, Familial, With In Vitro Radioresistance	Neoplasm	OMIM:114450
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Neoplasm	OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2	Neoplasm	OMIM:161550
Sinding-Larsen-Johansson Disease	Painless fractures due to injury, Joint swelling, Osteochondrosis, Limitation of knee mobility	ORPHA:97337
Panner Disease	Limited elbow movement, Abnormality of upper limb joint, Irregular articular surfaces of the elbo...	ORPHA:97336
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus	OMIM:600121
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr...	OMIM:615592
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis	OMIM:216950
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy...	ORPHA:85435
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias...	OMIM:212050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Tibial Hemimelia	Absent tibia	OMIM:275220
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Osteochondritis Dissecans	Abnormality of the knee, Decreased hip abduction, Joint stiffness, Abnormal joint morphology, Lim...	ORPHA:2764
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci...	ORPHA:277
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit...	OMIM:607850
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Glycoprotein Storage Disease	Gout	OMIM:232900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Lymphedema, Joint stiffness, Polyarticular arthropathy, Abnormality of t...	ORPHA:66627
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope...	OMIM:226990
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Joint swelling, Arthritis	ORPHA:1525
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-...	OMIM:615767
Congenital Atransferrinemia	Arthritis, Recurrent infections	ORPHA:1195
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec...	OMIM:147060
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Osteochondrosis Of The Tarsal Bone	Pedal edema, Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossificat...	ORPHA:563991
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ...	OMIM:619752
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count...	ORPHA:98813
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur...	OMIM:269840
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections	OMIM:606445
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Pleural effusion, Juveni...	ORPHA:85414
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG leve...	OMIM:618986
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, Leukocytosi...	ORPHA:2902
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o...	OMIM:607594
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 62	Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ...	OMIM:618459
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re...	OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, B...	OMIM:601457
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections, Sepsis	ORPHA:36237
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ...	OMIM:301082
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I...	OMIM:256500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula...	OMIM:609325
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym...	OMIM:102700
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth...	OMIM:208230
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating tota...	OMIM:619510
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreas...	OMIM:606367
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi...	OMIM:259700
Peeling Skin Syndrome 1	Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Knee osteoarthrit...	ORPHA:2619
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Wrist flexion contracture, Congenital fing...	OMIM:208250
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Myo...	ORPHA:829
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Aspergillosis	Sinusitis, Neutropenia, Cough, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect...	ORPHA:1163
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Meningitis, Leukocy...	ORPHA:292
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Abs...	OMIM:615816
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c...	ORPHA:276
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia	ORPHA:88621
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c...	OMIM:308240
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv...	ORPHA:449400
Roifman Syndrome	Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev...	ORPHA:353298
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec...	OMIM:620282
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness	OMIM:166700
Familial Afibrinogenemia	Joint swelling	ORPHA:98880
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,...	ORPHA:90045
Mucopolysaccharidosis, Type Ix	Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Joint swelling	OMIM:609628
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid...	OMIM:608971
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia...	OMIM:308230
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ...	OMIM:614069
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo...	ORPHA:93351
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I...	OMIM:615285
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Q Fever	Abnormal left ventricular function, Cholecystitis, Meningitis, Infectious encephalitis, Maculopap...	ORPHA:781
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia	OMIM:616069
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le...	ORPHA:397596
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Micrognathia, High iliac wing, Osteopetrosis, Large iliac wing, F...	ORPHA:2780
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula...	OMIM:619644
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Recurrent pharyngitis, Splenomegaly, Hepatitis, Endocard...	ORPHA:549
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ski...	ORPHA:81
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Myoc...	ORPHA:206569
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Osteosarcoma	Joint swelling, Pathologic fracture, Osteolysis	ORPHA:668
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections	OMIM:618985
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Recurrent phary...	ORPHA:3099
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact...	OMIM:300310
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Inflammation of the ...	OMIM:301000
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormality of the knee, Enlarged interphalangeal joints, Rheumatoid factor positive, Wrist swell...	ORPHA:1159
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal cotton wool spot, Normocytic anemia, Skin rash, Pneumonia, R...	ORPHA:247691
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Recurrent infections	OMIM:616941
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Joint...	ORPHA:93387
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Synovi...	OMIM:186580
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler...	OMIM:618476
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive...	OMIM:615559
American Trypanosomiasis	Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Achal...	ORPHA:3386
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Asthma, Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali...	OMIM:201170
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,...	OMIM:300635
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ...	OMIM:222600
Immunodeficiency 92	Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Eales Disease	Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans...	ORPHA:40923
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections...	OMIM:618495
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ...	OMIM:616005
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In...	ORPHA:2314
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Peripheral Dysostosis	Osteoarthritis, Joint stiffness	ORPHA:1795
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ...	OMIM:618987
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand...	ORPHA:572
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi...	ORPHA:183
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum,...	OMIM:614078
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ...	OMIM:615758
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col...	ORPHA:37042
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Meningitis, Splenomegaly, Hypotension, Infectious encep...	ORPHA:83317
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys...	OMIM:177170
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,...	ORPHA:2639
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increa...	ORPHA:1304
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness	OMIM:604864
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro...	OMIM:603554
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Hemophilia A	Joint swelling, Abnormality of the elbow, Joint hemorrhage	ORPHA:98878
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Recurrent upper respiratory tract inf...	OMIM:613101
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe...	ORPHA:139402
Acute Lung Injury	Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu...	ORPHA:178320
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join...	ORPHA:169802
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Myocardial infarction, Myocard...	ORPHA:3452
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ...	OMIM:240500
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Recurrent infections, Decreased circulating antibody level, Partial absence o...	OMIM:618261
Moderate Hemophilia A	Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo...	ORPHA:169805
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Proximal place...	ORPHA:628
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic defects of...	ORPHA:83468
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture...	OMIM:616897
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Hypotension, Arrhythmia, Pancreatitis	ORPHA:188
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Omenn Syndrome	Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythroderma, Abnormal ...	ORPHA:39041
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthes...	ORPHA:29207
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia...	ORPHA:3392
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Sydenham Chorea	Septic arthritis, Endocarditis, Recurrent streptococcus pneumoniae infections	ORPHA:306731
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:241530
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Achondroplasia	Brachydactyly, Radial bowing, Limited hip extension, Short femur, Rhizomelia, Bowing of the legs,...	OMIM:100800
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Myositis, Skin rash, Gastritis, Myoc...	ORPHA:809
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Lujo Hemorrhagic Fever	Shock, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:319213
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopenia	OMIM:617425
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den...	OMIM:618392
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren...	ORPHA:275
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome...	OMIM:615387
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Asthma, L...	ORPHA:2070
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Skin rash, Pustule, Osteolysis, Fused cervical vertebrae, Joint swelli...	OMIM:612852
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P...	ORPHA:31205
Shigellosis	Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Sepsi...	ORPHA:810
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Beukes Hip Dysplasia	Osteoarthritis, Shallow acetabular fossae	OMIM:142669
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis...	ORPHA:533
Wilson Disease	Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Pathologic fracture	ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality...	ORPHA:56305
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec...	ORPHA:634
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis	ORPHA:2724
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Selective Igm Deficiency	Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent...	ORPHA:331235
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Epiphyseal Dysplasia, Multiple, 3	Osteoarthritis, Delayed epiphyseal ossification, Limited elbow extension, Limited knee extension,...	OMIM:600969
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Anti-dsDNA antibody positivity...	ORPHA:567544
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt...	ORPHA:90280
Colchicine Poisoning	Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io...	ORPHA:31824
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Eosinophilia, Abscess, Asthma, Membranous nephropathy, ...	ORPHA:400
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent respiratory infections, Postaxial hand polydactyly, Recurrent upper respiratory tract i...	OMIM:300209
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Glomerulonephrit...	ORPHA:90291
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv...	ORPHA:724
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Recurrent viral infections, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membrano...	OMIM:618999
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi...	ORPHA:79124
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Flat acetabular...	ORPHA:163649
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Multiple Epiphyseal Dysplasia, Beighton Type	Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Ar...	ORPHA:166011
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Sepsis, Cholecystitis, Decreased circu...	ORPHA:183675
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ...	ORPHA:2331
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati...	ORPHA:70578
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Osteoporosis,...	OMIM:184260
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Melorheostosis	Increased bone mineral density, Joint stiffness, Lymphedema, Arthritis, Ectopic ossification in m...	ORPHA:2485
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ...	OMIM:123000
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Elevated circ...	ORPHA:158061
Pachydermoperiostosis	Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Os...	ORPHA:2796
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul...	ORPHA:33355
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:615139
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva...	OMIM:178500
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,...	OMIM:604416
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Flared metaphysis, ...	ORPHA:93346
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir...	OMIM:612541
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe...	ORPHA:47612
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Osteoarthritis, Delayed epiphyseal ossification	OMIM:618618
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Roifman Syndrome	Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media	OMIM:616651
Schnitzler Syndrome	Skin rash, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arthritis, Anemia	ORPHA:37748
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral...	OMIM:608957
Adenocarcinoma Of The Esophagus	Barrett esophagus, Esophageal carcinoma, Obesity, Gastroesophageal reflux, Clinodactyly of the 5t...	ORPHA:99976
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin...	OMIM:620210
Farber Disease	Abnormality of the knee, Abnormality of the elbow, Recurrent upper respiratory tract infections, ...	ORPHA:333
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ...	OMIM:259720
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T...	OMIM:608940
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Brain abscess, Hypertensive crisis, Increased circulating interleukin 6 concentrati...	ORPHA:544482
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa...	OMIM:615122
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec...	OMIM:209920
Vertical Talus, Congenital	Arthritis	OMIM:192950
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo...	OMIM:618188
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Desmosterolosis	Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Osteopetr...	ORPHA:35107
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Impaired T cell funct...	OMIM:613179
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic...	OMIM:242860
Thrombocytopenia 1	Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas...	ORPHA:507
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R...	OMIM:617780
Drug-Induced Lupus Erythematosus	Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki...	ORPHA:231111
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc...	ORPHA:73263
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Precocious costochondral ossification, Short femoral neck	OMIM:271630
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr...	ORPHA:542592
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints	ORPHA:465508
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Sepsis, Nephritis, In...	ORPHA:2552
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Advanced ossification of carpal bones, Knee dislocation, Short long bon...	OMIM:620269
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,...	OMIM:618961
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Pes planus, Coxa valga, Micrognathia, Advanced ossification o...	OMIM:618363
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ...	OMIM:619774
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni...	OMIM:618116
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor...	OMIM:619638
Alkaptonuria	Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join...	ORPHA:56
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn...	OMIM:224300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Muscular Dystrophy, Becker Type	Cardiomyopathy, Arrhythmia, Abnormal EKG, Elevated circulating creatine kinase concentration	OMIM:300376
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Facial edema, Erythema nodosum, Crusting ery...	ORPHA:324625
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen...	ORPHA:89936
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os...	ORPHA:667
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent skin infections, Decreased circulating antibody level, Hypocysti...	OMIM:617744
Lead Poisoning	Skin rash, Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal res...	ORPHA:330015
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat...	ORPHA:36238
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Relapsing Polychondritis	Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc...	ORPHA:728
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na...	ORPHA:540
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Scorpion Envenomation	Bundle branch block, Tachycardia, Acute pancreatitis, Increased circulating NT-proBNP concentrati...	ORPHA:466677
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Camptodactyly	OMIM:619751
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Inc...	ORPHA:449432
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Kikuchi-Fujimoto Disease	Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Thrombocy...	ORPHA:50918
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Atopic dermatitis, Retinal neovascularization	OMIM:619074
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Myocardial infarction, Myocarditis, Ma...	ORPHA:892
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut...	ORPHA:101096
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue	ORPHA:2762
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro...	ORPHA:217260
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:411593
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Recurrent infections, B lymp...	OMIM:301078
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko...	ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp...	OMIM:614868
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of...	ORPHA:221
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-reactive protein co...	OMIM:613011
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Dyspnea, Abnormal spleen morphology, In...	ORPHA:284
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli...	ORPHA:228123
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Recurrent respiratory infections, Median cleft palate, Large for gestational age	ORPHA:2432
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Pfapa Syndrome	Arthritis, Infectious encephalitis, Recurrent pharyngitis	ORPHA:42642
Wells Syndrome	Eosinophilia	ORPHA:901
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Joint swelling, Panniculitis, Skin rash	OMIM:617099
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating C-reactive protein co...	OMIM:615934
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie...	OMIM:619126
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip...	OMIM:156550
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans	OMIM:165800
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta...	ORPHA:93352
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ...	ORPHA:166002
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Dysplasia Epiphysealis Hemimelica	Recurrent fractures, Tarsal synostosis, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum	ORPHA:1822
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Bardet-Biedl Syndrome 11	Polydactyly, Obesity	OMIM:615988
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh...	OMIM:614524
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent...	OMIM:616229
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu...	OMIM:617925
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sepsis, Leukopenia, Increased ci...	ORPHA:319218
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration	OMIM:309930
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Splenomegaly, Recurrent infections, Anemia, Arthritis, Panniculit...	OMIM:617591
Immunodeficiency 68	Septic arthritis, Lymphadenitis, Recurrent skin infections, Sepsis	OMIM:612260
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis...	OMIM:611926
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh...	OMIM:300106
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Bardet-Biedl Syndrome 14	Polydactyly, Obesity	OMIM:615991
Shox-Related Short Stature	Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie...	OMIM:619381
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocati...	OMIM:618395
Immunodeficiency 33	Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level	OMIM:300636
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Keratitis, Orchitis, Abno...	ORPHA:449563
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum	ORPHA:85198
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy...	ORPHA:767
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl...	OMIM:106300
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis	OMIM:616414
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Bardet-Biedl Syndrome 13	Polydactyly, Obesity	OMIM:615990
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi...	OMIM:602875
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Talipes equinovarus	OMIM:618845
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Immunodeficiency 108 With Autoinflammation	Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrop...	OMIM:260570
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Prolidase Deficiency	Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting erythematous de...	OMIM:170100
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:200400
Sneddon Syndrome	Bicuspid aortic valve, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischem...	OMIM:182410
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,...	OMIM:615207
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Pseudoleprechaunism Syndrome, Patterson Type	Joint swelling, Delayed pubic bone ossification, Flat acetabular roof, Genu valgum	ORPHA:2976
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Scedosporiosis	Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ...	ORPHA:449280
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Increased circulating IgG level, Increased circulating IgM le...	ORPHA:83313
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Micromelia, Abnormal epiphysis morpholo...	ORPHA:1798
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro...	OMIM:151210
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und...	OMIM:602557
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r...	OMIM:612444
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Familial Cold Autoinflammatory Syndrome 2	Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis	OMIM:611762
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Lymphocytosis	ORPHA:79087
Immunodeficiency 40	Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte...	OMIM:616433
Pelizaeus-Merzbacher Disease	Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, Optic atrophy...	OMIM:312080
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Aplastic ...	ORPHA:50945
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Premature osteoarthritis, Flexion contrac...	OMIM:215150
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density	ORPHA:3352
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Achondroplasia	Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Wide a...	ORPHA:15
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo...	OMIM:617952
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Abnormal sacroiliac joint morphol...	ORPHA:324964
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Joint stiffness	ORPHA:1345
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Obesity, Recurrent otitis media, Polydactyly, Bronchiolitis	OMIM:615993
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Edema, Osteomyelitis, Pustule, Abnormal sacro...	ORPHA:793
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi...	ORPHA:1427
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Myocardial infarction	OMIM:608320
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto...	ORPHA:98848
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi...	ORPHA:239
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara, Short femoral n...	ORPHA:2848
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Hypochondroplasia	Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum	ORPHA:429
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Pes planus, Monkey wrench femoral neck, Cox...	OMIM:615777
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Tempi Syndrome	Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ...	ORPHA:284227
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Osteolysis, Joint swelling, Pleural eff...	ORPHA:35687
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, Angioedema, Chronic he...	ORPHA:3260
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Recurre...	ORPHA:47
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho...	ORPHA:370930
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac...	ORPHA:1652
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal...	OMIM:269250
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Autoimmunity, Pericardial effusion, Angioedema, Uveit...	ORPHA:36412
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Femoral...	OMIM:616723
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Familial Cold Urticaria	Arthritis, Conjunctivitis, Dehydration	ORPHA:47045
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Conjunctivitis, Skin rash, Uveitis	OMIM:120100
Leptin Deficiency Or Dysfunction	Recurrent ear infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obes...	OMIM:614962
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria...	ORPHA:221139
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Acute pancreatitis, Recurrent urinary tract infections, Chilblain...	OMIM:619487
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Wide anterior fontanel, Ulnar bowing, Shortening of all dis...	OMIM:619135
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Recurrent infections	OMIM:617056
Microlissencephaly	Pneumonia	ORPHA:1083
Autoimmune Hepatitis	Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle...	ORPHA:2137
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasi...	OMIM:613490
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Flared metaphysis,...	OMIM:618019
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Myositis, Fasciitis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, 4-5 metacarpal ...	OMIM:206920
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplasi...	ORPHA:221016
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Tarsal synosto...	ORPHA:90652
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo...	OMIM:131300
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,...	OMIM:616145
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl...	ORPHA:486815
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl...	ORPHA:98850
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Proximal placement of thumb, Short hallux, Hal...	OMIM:140000
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Widened...	OMIM:108721
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph...	ORPHA:221008
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small prox...	ORPHA:96334
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti...	OMIM:613470
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Edema, Skin rash, Wrist swelling, Arthritis, Conjunctivi...	ORPHA:448237
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Flexion ...	OMIM:263210
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen...	ORPHA:763
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness...	ORPHA:85436
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju...	OMIM:617321
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd...	ORPHA:93311
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Osteomalacia, Recurrent fractures, Joint stiffness, Hip disloca...	ORPHA:534
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Adult-Onset Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly...	ORPHA:171442
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Monosomy 22	Joint swelling, Seborrheic dermatitis, Contractures of the large joints	ORPHA:96123
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Lower limb asymmetry, Hypoplastic iliac wing, Avascular necr...	ORPHA:93315
Graft Versus Host Disease	Dupuytren contracture, Fasciitis, Myositis, Acute hepatitis, Limited elbow movement, Maculopapula...	ORPHA:39812
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Distal symphalangism, Radial bowing, Pseudoepiphyses of the metac...	OMIM:210720
African Trypanosomiasis	Abnormal EKG, Pericarditis, Papilledema, Keratitis, Myocarditis, Congestive heart failure, Spleno...	ORPHA:3385
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Summitt Syndrome	Syndactyly, Obesity	OMIM:272350
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu...	OMIM:214500
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Azoospermia, Hypertension	OMIM:615703
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating tra...	ORPHA:90363
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Short fin...	OMIM:103580
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Anti-Glomerular Basement Membrane Disease	Arthritis, Autoimmunity	ORPHA:375
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Tapered finger, Cryptorchidism, Recurrent upper respiratory tract infections, Increased body weig...	ORPHA:589905
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Sepsis, Hashimoto thyroiditis	ORPHA:199299
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of...	ORPHA:370010
Subcorneal Pustular Dermatosis	Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc...	ORPHA:99826
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Riddle Syndrome	Pneumonia, Bronchitis, Recurrent viral infections, Elevated circulating alpha-fetoprotein concent...	ORPHA:420741
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Geleophysic Dysplasia 1	Osteopenia, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of the capital femor...	OMIM:231050
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid tuberosities, Rhizomeli...	OMIM:619636
Pediatric Systemic Lupus Erythematosus	Myositis, Antiphospholipid antibody positivity, Skin rash, Edema, Antineutrophil antibody positiv...	ORPHA:93552
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent...	OMIM:617303
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto...	ORPHA:67
Periodic Fever, Familial, Autosomal Dominant	Myositis, Maculopapular exanthema, Skin rash, Periorbital edema, Oligoarthritis, Polyarticular ar...	OMIM:142680
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentration, Abnor...	ORPHA:158048
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Recurrent respiratory infections, Gout	ORPHA:411543
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Wild Type Abeta2M Amyloidosis	Arthropathy, Arthritis	ORPHA:85446
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613807
Melioidosis	Foot osteomyelitis, Pneumonia, Osteoarthritis, Sepsis, Hepatitis, Acute infectious pneumonia, Sep...	ORPHA:31202
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Paraproteinemia, Recurrent infections, Decreased circul...	ORPHA:329918
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ...	OMIM:271640
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Recurrent v...	OMIM:615577
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis	OMIM:602248
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm...	OMIM:614813
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Temple Syndrome	Small for gestational age, Overweight, Cryptorchidism, Flexion contracture, Small hand, Obesity, ...	OMIM:616222
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in...	ORPHA:169090
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing...	OMIM:300990
Lymphatic Filariasis	Glomerulonephritis, Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee o...	ORPHA:2035
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Synostosis of joints, Recurrent respiratory infections	ORPHA:61
Primary Intestinal Lymphangiectasia	Lymphopenia, Pericardial effusion, Hypomagnesemia, Cryptococcal meningitis, Decreased circulating...	ORPHA:90362
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac...	ORPHA:1865
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta...	ORPHA:542323
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulat...	OMIM:274000
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Pde4D Haploinsufficiency Syndrome	Joint laxity, Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatars...	ORPHA:439822
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele...	OMIM:610377
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Elevated circulati...	OMIM:208900
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Limited p...	ORPHA:163654
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent viral i...	ORPHA:293978
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpho...	ORPHA:77259
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Enthesitis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth...	ORPHA:85438
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw...	OMIM:190350
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult...	ORPHA:1826
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi...	OMIM:127000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchiectasis, Hepatiti...	ORPHA:391487
Classical Ehlers-Danlos Syndrome	Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo...	ORPHA:287
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Meni...	OMIM:249100
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Short...	ORPHA:79444
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Abnormal toe morphology, Obesity, Telangiectasia, Muscular d...	ORPHA:459033
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Cardiomyopathy, Abnormal EKG, Optic atrophy	ORPHA:1177
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Epis...	ORPHA:167
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Stickler Syndrome Type 1	Joint hyperflexibility, Osteoarthritis	ORPHA:90653
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo...	OMIM:259100
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun...	ORPHA:100026
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis	OMIM:614204
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist	ORPHA:1657
Warburg-Cinotti Syndrome	Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ...	OMIM:618175
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Pes planus, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of t...	OMIM:616007
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti...	ORPHA:2968
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Ulnar Hemimelia	Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec...	ORPHA:93320
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis	OMIM:619423
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, R...	ORPHA:117
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Incontinentia Pigmenti	Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis	OMIM:308300
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter...	OMIM:615561
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Pericardial effusion, Rod-cone dystrophy, Cardiomyopathy, Hypoalbuminemia, Hypochol...	OMIM:212065
Generalized Pustular Psoriasis	Pustule, Sepsis, Uveitis, Pedal edema, Cheilitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia, Exertional dys...	ORPHA:514
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Knee flexion contracture, Abnormal calcification of...	OMIM:271665
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R...	OMIM:306400
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni...	ORPHA:289390
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit...	ORPHA:797
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor...	OMIM:615630
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,...	ORPHA:811
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Cryptorchidism, Pyloric stenosis, Small hand, Obesity, Cleft palate, S...	ORPHA:96184
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the...	ORPHA:3210
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Recurrent fractures, Micrognathia	ORPHA:2785
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Leukopenia, Conjunctivitis, Hypoalbuminemia, Atrial septal defect, Decreased circulating ...	ORPHA:505248
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a...	ORPHA:575
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Meningitis, Recurrent pharyngitis, Vasculitis, Opt...	ORPHA:397
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age	OMIM:617119
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Talipe...	OMIM:210600
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Acromegaly	Joint swelling, Osteoarthritis, Palpebral edema, Acne	ORPHA:963
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S...	ORPHA:79443
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Hemochromatosis, Type 4	Osteoarthritis	OMIM:606069
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Cervical subluxation	OMIM:184100
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Flexion contracture, Polydactyly, Short femur	ORPHA:17
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant...	ORPHA:1855
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
8Q24.3 Microdeletion Syndrome	Joint laxity, Long toe, Microretrognathia, Congenital hip dislocation, Short femur, Rocker bottom...	ORPHA:508488
Leptospirosis	Papilledema, Pericarditis, Skin rash, First degree atrioventricular block, Conjunctival hyperemia...	ORPHA:509
Osteoglophonic Dysplasia	Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia	ORPHA:1237
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormal myelination	ORPHA:431329
Incontinentia Pigmenti	Skin rash, Eosinophilia, Keratitis, Uveitis, Pulmonary arterial hypertension, Infectious encephal...	ORPHA:464
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612462
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,...	ORPHA:94089
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Short palm	OMIM:241410
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ...	OMIM:617718
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Somatomammotropinoma	Joint swelling, Osteoarthritis, Palpebral edema	ORPHA:314769
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Adiposis Dolorosa	Recurrent skin infections, Arthritis, Xerostomia, Autoimmunity	ORPHA:36397
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Elevate...	ORPHA:79126
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Nail-Patella Syndrome	Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,...	ORPHA:2614
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Fetal ascites, Chronic ot...	OMIM:619503
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr...	ORPHA:264675
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A...	ORPHA:800
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr...	ORPHA:2769
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Dyspnea, Iridocyclitis, Bronchiecta...	OMIM:181000
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Reynolds Syndrome	Skin rash, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Ascites, Infectious encephalitis	ORPHA:779
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler...	ORPHA:2905
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar...	OMIM:612387
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Recurrent urinary tract infections, Gout	ORPHA:3467
Sponastrime Dysplasia	Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri...	ORPHA:93357
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Liver abs...	ORPHA:31204
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension	OMIM:614651
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Micrognathia, Hypoplastic iliac wing, 4-5 toe syndactyly, Humer...	OMIM:260660
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,...	ORPHA:70587
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat...	OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia	OMIM:618253
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Micrognathia, Squared iliac bones, Small hand, Hypoplasia of the capital ...	OMIM:611209
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ...	ORPHA:171
Monosomy 18Q	Abnormal myelination, Left-to-right shunt, Absence of the pulmonary valve, Abnormal retinal morph...	ORPHA:1600
Laron Syndrome	Osteoarthritis, Abnormality of the elbow	ORPHA:633
Familial Mediterranean Fever	Pericarditis, Skin rash, Myocardial infarction, Orchitis, Meningitis, Osteoarthritis, Vasculitis,...	ORPHA:342
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal...	OMIM:259775
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut...	OMIM:258360
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronc...	OMIM:619184
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis	ORPHA:902
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respi...	OMIM:620296
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Takayasu Arteritis	Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye	ORPHA:3287
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Increased body mass index, Increased body weight	OMIM:614450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Radial head subluxation, Multiple joint dislocation, Genu varum, Premature osteoart...	ORPHA:93360
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Lassa Fever	Dyspnea, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ...	OMIM:614162
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus	OMIM:224410
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Wheezing, Myeloproliferative disorder, Lymphocytosis, Erythroderma	ORPHA:79456
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal, Small hand, Small...	OMIM:170390
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Overlapping finge...	OMIM:617022
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis	ORPHA:309288
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen...	OMIM:300972
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,...	OMIM:251260
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ...	ORPHA:169189
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat...	ORPHA:2298
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Osteoporosis	ORPHA:77296
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegal...	OMIM:615846
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Cor pulmonale, Decreased circulating IgA level	OMIM:215250
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Recurrent infection of the gastrointestinal tract, Allodynia,...	ORPHA:51890
Sanjad-Sakati Syndrome	Short foot, Small hand, Patchy osteosclerosis, Micrognathia	ORPHA:2323
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia	ORPHA:94063
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le...	ORPHA:297
Congenital Analbuminemia	Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, Recurrent lower ...	ORPHA:86816
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Hyperimmunoglobulinemia D With Periodic Fever	Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis	ORPHA:343
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar...	OMIM:620233
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterior fontanel, ...	OMIM:249420
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu...	OMIM:615418
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Colitis, ...	OMIM:301220
Diffuse Cutaneous Systemic Sclerosis	Autoimmunity, Flexion contracture, Xerostomia, Osteolysis, Arthritis	ORPHA:220393
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci...	ORPHA:29073
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastr...	OMIM:612132
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility	OMIM:108300
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati...	OMIM:603041
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Campt...	ORPHA:412035
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Mirage Syndrome	Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A...	OMIM:617053
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:600151
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Hip dislocation, Osteoporosis, Knee disloca...	OMIM:618000
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Flexion contr...	OMIM:264090
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Obesit...	ORPHA:65759
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor...	ORPHA:77261
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Optic atrophy, Telangiectasia, Abnormal heart morphology, ...	ORPHA:93400
Wolcott-Rallison Syndrome	Recurrent infections, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Neutropenia	ORPHA:1667
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Hyperuricemia, Hprt-Related	Podagra	OMIM:300323
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl...	ORPHA:340
Simpson-Golabi-Behmel Syndrome	Splenomegaly, Increased circulating IgE level, Polysplenia	ORPHA:373
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,...	ORPHA:980
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Bloom Syndrome	Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash...	OMIM:210900
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly,...	OMIM:613385
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Increased body weight	ORPHA:276608
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Viss Syndrome	Chronic gastritis, Eczema, Dyspnea, Asthma, Increased circulating IgE level, Hypereosinophilia, P...	OMIM:619472
Mogs-Cdg	Decreased circulating IgG level, Cardiomegaly, Optic atrophy, Decreased circulating antibody leve...	ORPHA:79330
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Cryoglobulinemic Vasculitis	Arthritis, Keratoconjunctivitis sicca, Viral hepatitis	ORPHA:91138
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t...	ORPHA:562639
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227990
Lysinuric Protein Intolerance	Glomerulonephritis, Thrombocytopenia, Increased circulating ferritin concentration, Intraalveolar...	ORPHA:470
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an...	OMIM:114065
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Hypoplasia of the odontoid process, Split hand, F...	OMIM:252500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, Astrocytosis, H...	ORPHA:309854
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long...	ORPHA:3455
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, R...	OMIM:620005
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em...	ORPHA:70591
Japanese Encephalitis	Respiratory distress, Neutrophilia, Pulmonary edema, Increased circulating IgM level, Respiratory...	ORPHA:79139
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level, Hyperventilation	ORPHA:83600
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran...	ORPHA:268
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Rift Valley Fever	Skin rash, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, Increased circulating IgM...	ORPHA:319251
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Dehydration	ORPHA:92050
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227982
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increased mean ...	OMIM:127550
Localized Scleroderma	Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finge...	ORPHA:90289
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Talipes equinovalgus, Accesso...	OMIM:150250
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Abnormality of cytokine secretion	ORPHA:567983
Macrocephaly/Autism Syndrome	Large for gestational age, Obesity, Recurrent infections, Hydrocele testis, Overgrowth, High pala...	OMIM:605309
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity, Anti-La/SS-B antibody posit...	ORPHA:536
Scleromyxedema	Elevated circulating creatine kinase concentration, Abnormal lung morphology, Paraproteinemia, Ab...	ORPHA:167635
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur...	ORPHA:204
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosis, Osteopathi...	OMIM:300373
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration	ORPHA:90003
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity	OMIM:264120
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Glycogen Storage Disease Vii	Gout	OMIM:232800
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, E...	ORPHA:99829
Fanconi Anemia, Complementation Group F	Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:603467
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Malabsorption	OMIM:600955
Timothy Syndrome	Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections	OMIM:601005
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly	OMIM:619479
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ...	ORPHA:2357
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Edema, Pustule, Orchitis, Angioedema, Arthritis, Infectious encephalitis	ORPHA:761
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati...	ORPHA:70588
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Primary Biliary Cholangitis	Increased circulating IgA level, Hepatitis, Gastrointestinal inflammation, Increased circulating ...	ORPHA:186
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Rocker bottom foot, Micrognat...	ORPHA:79474
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal heart mor...	ORPHA:1666
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Smith-Magenis Syndrome	Velopharyngeal insufficiency, Increased body weight, Brachydactyly, Short palm	OMIM:182290
Thymoma	Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce...	ORPHA:99867
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Flattened femoral head, Acetabu...	ORPHA:79255
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Recurrent infections, Arthritis, Panniculitis, Recurrent sin...	OMIM:615688
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Small for gestational age, O...	ORPHA:26793
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Optic atrophy, Congestive heart failure	OMIM:229300
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Short foot, Short long bone, Limb undergrowt...	OMIM:269860
Desmosterolosis	Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogrypos...	OMIM:602398
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Cryptorch...	ORPHA:3138
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Esophageal varix, Increased body weight...	ORPHA:264580
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Vomiting, Hypotension, Mastocytosis, Arrhythmia	ORPHA:2135
Congenital Disorder Of Glycosylation, Type Iib	Demyelinating peripheral neuropathy, Optic atrophy, Decreased circulating IgA level, Decreased ci...	OMIM:606056
Kinsship Syndrome	Osteopenia, Pes planus, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Glycogen Storage Disease Ib	Osteoporosis, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Pancreat...	OMIM:232220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Short foot, Broad hallux, Increased body weight, 2-3 toe syndactyly	OMIM:300860
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Decreased circulating total IgM, ...	ORPHA:369837
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Increased body weight, Hepa...	ORPHA:79240
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension, Abdominal obesity, Increased body weight	OMIM:615954
Idiopathic Camptocormia	Abnormal inflammatory response, Osteoarthritis, Myelitis, Myositis	ORPHA:1320
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis	OMIM:600501
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Cushing Disease	Acne, Leukocytosis, Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia	ORPHA:96253
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv...	ORPHA:79128
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Aapoaiv Amyloidosis	Abnormal lung morphology, Paraproteinemia, Chronic pulmonary obstruction	ORPHA:439232
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor posi...	ORPHA:49041
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or...	ORPHA:230
Sotos Syndrome	Cryptorchidism, High, narrow palate, Long metacarpals, Increased body weight, Narrow palate, Genu...	OMIM:117550
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D...	OMIM:620040
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Cog1-Cdg	Osteopenia, Rhizomelia, Micrognathia, Coxa valga, Flat acetabular roof, Short long bone, Talipes ...	ORPHA:263508
Gaucher Disease	Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:355
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, Hy...	OMIM:212750
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Insulinoma	Increased body weight, Zollinger-Ellison syndrome, Palpitations	ORPHA:97279
Gaucher Disease, Type Ii	Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm...	OMIM:230900
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:480864
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Increas...	ORPHA:79078
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Demyelinating peripheral neuropathy, Splen...	ORPHA:90324
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosis, Sepsis, Asp...	ORPHA:94093
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Decreased circulating total IgM, Eczema, Allergic rhinitis	OMIM:618162
Tetrasomy 9P	Pericarditis, Myositis, Abnormal chorioretinal morphology, Dextrocardia, Recurrent urinary tract ...	ORPHA:3310
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Sepsis,...	ORPHA:707
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Recurrent respiratory infections, Splenomegaly, Delay...	ORPHA:404454
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Eczema, Recurrent infections, Acute lymphoblast...	OMIM:223370
Myhre Syndrome	Vertebral fusion, Overlapping toe, Joint stiffness, Hypoplastic iliac wing, Short toe, Limitation...	OMIM:139210
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti...	ORPHA:354
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Bronchial Neuroendocrine Tumor	Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho...	ORPHA:97287
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Wide ...	OMIM:180700
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis	ORPHA:1272
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Increased body weight, Large for gestational age	ORPHA:263455
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis	OMIM:161700
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Cryptorchidism, Flexion contracture, Xerostomia, Increased body...	ORPHA:398069
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration, Abnormal myelination	ORPHA:442835
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:617062
Hereditary Spherocytosis	Maculopapular exanthema, Gout	ORPHA:822
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect...	ORPHA:309282
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ...	ORPHA:79259
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Marshall Syndrome	Osteoarthritis, Genu valgum	ORPHA:560
Glycogen Storage Disease Ic	Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflammation of the lar...	OMIM:232240
Sitosterolemia 1	Arthritis	OMIM:210250
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Elevated circulating al...	OMIM:619991
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Glycogen Storage Disease Ia	Osteoporosis, Pancreatitis, Gout	OMIM:232200
Wilson Disease	Osteomalacia, Edema, Joint hypermobility, Osteoarthritis, Atypical or prolonged hepatitis, Osteop...	OMIM:277900
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Increased body weight	OMIM:615830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D...	ORPHA:79404
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Recurrent infections	OMIM:300661
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I...	ORPHA:68
Degcags Syndrome	Tachycardia, Recurrent urinary tract infections, Ventricular septal defect, Pneumonia, Pancytopen...	OMIM:619488
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Obesity, Ge...	ORPHA:98908
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Benign Schwannoma	Intestinal polyposis, Facial palsy, Abnormal fibula morphology, Abnormal parotid gland morphology...	ORPHA:252164
Loeys-Dietz Syndrome 5	Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture...	OMIM:615582
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Igg4-Related Thyroid Disease	Thyroiditis, Sclerosing cholangitis, Hashimoto thyroiditis, Increased circulating IgG4 level	ORPHA:64744
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib...	ORPHA:3132
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Pes planus, Down-sloping...	ORPHA:904
Ayme-Gripp Syndrome	Pericarditis	OMIM:601088
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Chops Syndrome	Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu...	OMIM:616368
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Gliosis, Abnormal myelination	ORPHA:280210
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Small cell lung carcinoma, Leukocytosis, Recurrent cutaneous fungal infections, Decreased e...	ORPHA:99889
Chronic Graft Versus Host Disease	Fasciitis, Urinary bladder inflammation, Flexion contracture, Xerostomia, Bronchiectasis, Recurre...	ORPHA:99921
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Adrenocortical Carcinoma	Hypertension, Increased body weight, Palpitations, Weight loss	ORPHA:1501
Mucopolysaccharidosis, Type Vi	Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de...	OMIM:253200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension, Abdominal obesity, Increased body weight, Proximal amyotrophy	ORPHA:189427
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hyperflexibility	ORPHA:93111
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Recurrent St...	ORPHA:642
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Arthritis, Panniculitis	ORPHA:51
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Recurrent ear infections, Recurrent upper respiratory tract infections, ...	ORPHA:217085
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R...	ORPHA:99104
Cornelia De Lange Syndrome 1	Pneumonia, Thrombocytopenia, Otitis media	OMIM:122470
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli...	ORPHA:581
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Recurrent ear infections, Recurrent upper respiratory tract infections, ...	ORPHA:217093
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ...	ORPHA:284984
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Pmm2-Cdg	Pericarditis, Angina pectoris, Pericardial effusion, Reduced thyroxin-binding globulin, Delayed m...	ORPHA:79318
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr...	ORPHA:83617
Stickler Syndrome	Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Osteoarthritis, Hip dis...	ORPHA:828
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Aspiration pneumonia	OMIM:301072
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Hunter-Macdonald Syndrome	Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c...	OMIM:611962
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration...	ORPHA:1018
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
22Q11.2 Deletion Syndrome	Acne, Autoimmunity, Polyhydramnios, Seborrheic dermatitis, Multiple suture craniosynostosis, Arth...	ORPHA:567
Fabry Disease	Reduced bone mineral density, Arthritis, Lymphedema	ORPHA:324
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cerv...	ORPHA:444077
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Pneumonia	ORPHA:90790
Noonan Syndrome 1	Cubitus valgus, Chylothorax, Synovitis, Lymphedema	OMIM:163950
Osteogenesis Imperfecta	Osteopenia, Protrusio acetabuli, Recurrent fractures, Fractures of the long bones, Osteoarthritis...	ORPHA:666
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Abnormal peripheral myelination, Atopic dermatitis, Abnormal...	ORPHA:466768
Marshall-Smith Syndrome	Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art...	OMIM:602535
Hellp Syndrome	Cerebral hemorrhage, Increased body weight, Internal hemorrhage, Hypotension	ORPHA:244242
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia	OMIM:619167
Mucopolysaccharidosis Type 2	Recurrent ear infections, Limitation of joint mobility, Recurrent upper respiratory tract infecti...	ORPHA:580
Aspartylglucosaminuria	Chronic otitis media, Arthritis, Recurrent respiratory infections, Joint stiffness	ORPHA:93
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
Gaisböck Syndrome	Cholecystitis, Gout	ORPHA:90041
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Niemann-Pick Disease Type C	Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato...	ORPHA:646
Gitelman Syndrome	Pericardial effusion, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Chondrocalcinosis	ORPHA:358
Cholera	Tachypnea, Aspiration pneumonia, Hyperventilation	ORPHA:173
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita...	ORPHA:740
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Aspiration pneumonia	ORPHA:99027
Carney Complex	Neoplasm of the stomach, Testicular neoplasm, Hepatocellular carcinoma, Esophageal neoplasm, Cong...	ORPHA:1359
Marfan Syndrome	Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl...	OMIM:154700
Loeys-Dietz Syndrome 3	Joint laxity, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, ...	OMIM:613795
Lacrimoauriculodentodigital Syndrome	Arthritis, Keratoconjunctivitis sicca, Xerostomia, Keratoconjunctivitis	ORPHA:2363
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections	ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m...	ORPHA:353281
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m...	ORPHA:353277
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Retinal coloboma, Abnormal myelination	ORPHA:434179
Choreoacanthocytosis	Arthritis	ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia	ORPHA:438213
Kabuki Syndrome 1	Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Recurrent otitis media, Recu...	OMIM:147920
Doors Syndrome	Respiratory distress, Thrombocytosis, Aspiration pneumonia	ORPHA:79500
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:220386
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility...	ORPHA:286
Yunis-Varon Syndrome	Pulmonary arterial hypertension, 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.

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MGI Allele	Allele Type	Produced
Mmp9^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Mmp9^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Mmp9^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Mmp9^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Mmp9^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mmp9 MGI:97011

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Mmp9 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data