Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Mmp9tm1b(EUCOMM)Wtsi HOM Early adult 1.05×10-34

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Mmp9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... OMIM:611497
Intermittent Hydrarthrosis
Joint swelling, Chondrocalcinosis, Abnormality of the knee, Knee joint hypermobility ORPHA:329967
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... 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, Osteochondrosis, Limitation of knee mobility, Joint swelling ORPHA:97337
Panner Disease
Irregular articular surfaces of the elbow joints, Osteochondrosis, Abnormality of upper limb join... ORPHA:97336
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... ORPHA:1416
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Eiken Syndrome
Abnormal acetabulum morphology, Limited elbow flexion, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infections, Splenom... OMIM:614470
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lytic defects of humeral diaphysis, Fibular hyp... OMIM:601376
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chon... ORPHA:564003
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen... ORPHA:85435
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive sec... ORPHA:169160
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Recurrent opportunistic infec... ORPHA:277
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Limita... OMIM:619598
Mueller-Weiss Syndrome
Abnormality of the os naviculare pedis, Sclerosis of foot bone, Positional foot deformity, Chondr... ORPHA:566943
Tibial Hemimelia
Absent tibia OMIM:275220
Osteochondritis Dissecans
Limited elbow flexion, Abnormality of the knee, Abnormal joint morphology, Limited elbow extensio... ORPHA:2764
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... ORPHA:217390
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Glycoprotein Storage Disease
Gout OMIM:232900
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia OMIM:218300
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia, Onychomycosis OMIM:212050
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Mandi... OMIM:166600
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Tenosynovial Giant Cell Tumor
Synovial hypertrophy, Abnormal hip joint morphology, Chondrocalcinosis, Abnormality of the knee, ... ORPHA:66627
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... OMIM:615767
Cranio-Osteoarthropathy
Eczema, Abnormality of the knee, Arthritis, Joint stiffness, Osteoarthritis, Joint swelling ORPHA:1525
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... OMIM:611702
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Congenital Atransferrinemia
Recurrent infections, Arthritis ORPHA:1195
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis, Abnormality of the metaphysis ORPHA:1522
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... OMIM:606843
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Metaphyseal Anadysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Abnormality of the lower limb, Bowi... ORPHA:1040
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... OMIM:147060
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho... ORPHA:563991
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Arthritis, Recurrent respiratory infectio... OMIM:300310
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent candida infec... OMIM:269840
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... OMIM:618523
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Kienbock Disease
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Joint laxity, Metaphyseal ... OMIM:250460
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon... OMIM:617719
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proli... OMIM:617241
Isolated Osteopoikilosis
Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of foot bone, Scler... ORPHA:166119
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Osteoarthritis, Avascular necr... ORPHA:93308
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Abnormality of the epip... ORPHA:2114
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Limited wrist movement, Fibular hyp... OMIM:127300
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Short ... OMIM:271530
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Limited elbow extension, Abnormality of pelvic... OMIM:146000
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurre... OMIM:618986
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... ORPHA:1802
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash, Pleural e... ORPHA:85414
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, Upper-limb metap... OMIM:618728
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Atopic dermatitis, Crackles, Hypersensitivity pneumonitis, Inc... ORPHA:2902
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Arthritis, Ulnar... OMIM:228000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Decreased circulating Ig... OMIM:102700
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... OMIM:105835
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Atopic dermatitis, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Rheumatoid Arthritis
Polyarticular arthritis, Rheumatoid factor positive, Rheumatoid arthritis, Anti-citrullinated pro... OMIM:180300
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, Short long b... ORPHA:1423
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... OMIM:132400
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Flat distal femoral epiphysis, Arthralgia of the hip, ... OMIM:609324
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma OMIM:147050
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Double-layered patella, Flat capital femoral epiphysis, Hypoplasia of the ... OMIM:226900
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Generalized joint laxity, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral ne... OMIM:609325
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Bullous Impetigo
Sepsis, Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Hemochromatosis Type 4
Joint dislocation, Joint swelling, Limitation of joint mobility ORPHA:139491
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... OMIM:619220
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic ... OMIM:618282
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... OMIM:613953
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abn... ORPHA:75508
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Genu valgum, Mandibular osteomyelitis, Crania... OMIM:259710
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Progressive Pseudorheumatoid Dysplasia
Genu varum, Osteoporosis, Enlarged interphalangeal joints, Joint contracture of the hand, Camptod... OMIM:208230
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid le... OMIM:616871
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... OMIM:617514
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Immunodeficiency 88
Eosinophilia, Asthma OMIM:619630
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti... ORPHA:85408
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Hepatosplenomegaly, Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemoly... OMIM:606367
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased circulating a... OMIM:618495
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Autoimmunity, Abnormal joint morphology, Pericardial effusion, Abnormal ... ORPHA:92
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Recurrent bronchitis, Bronchiectasis, Recurrent ... OMIM:300853
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Pathologic fracture, Osteomyelitis, Co... OMIM:259700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... OMIM:208250
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,... ORPHA:2619
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea ORPHA:517
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Bon... ORPHA:829
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Eosinophilia, Lymphopenia, Abnormal pleura morphology ORPHA:2582
Aspergillosis
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Eosinophilia, Chronic pulmonary obstruction, Infect... ORPHA:1163
Netherton Syndrome
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Recurrent infections, Increased... OMIM:256500
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Chronic ... OMIM:613502
Congenital Enterovirus Infection
Myocarditis, Sepsis, Leukocytosis, Infectious encephalitis, Pericardial effusion, Neutropenia, Le... ORPHA:292
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... ORPHA:90650
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Decreased circulating IgG level, Decreased circulating anti... OMIM:308240
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly OMIM:264010
Pseudopseudohypoparathyroidism
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Ecto... ORPHA:79445
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Brachydactyly, Combined B And E Types
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... OMIM:112440
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... OMIM:215045
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Ichthyosis-Prematurity Syndrome
Eosinophilia, Neonatal respiratory distress ORPHA:88621
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Decreased circulating antibody level, Recurrent infections, Atrial sep... OMIM:617744
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... OMIM:616576
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Dysplastic Cortical Hyperostosis
Limb undergrowth, Increased bone mineral density, Abnormality of limb bone morphology, Abnormal c... ORPHA:2204
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Joint swelling OMIM:609628
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Hereditary Folate Malabsorption
Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Recurrent urinary tract in... ORPHA:90045
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent i... OMIM:608971
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... OMIM:209950
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... ORPHA:1952
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Recu... OMIM:603554
Gnathodiaphyseal Dysplasia
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... OMIM:166260
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Upper limb undergrowth, Abnormality of epiphysis morphology, Sho... ORPHA:93351
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... OMIM:600081
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Stomatitis, Decreased circulating IgA level,... OMIM:308230
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Q Fever
Myocarditis, Hepatitis, Splenomegaly, Hepatosplenomegaly, Vasculitis, Maculopapular exanthema, Ab... ORPHA:781
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Roifman Syndrome
Eczema, Decreased circulating antibody level, Recurrent otitis media, Hepatosplenomegaly, Recurre... ORPHA:353298
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flare... OMIM:601561
Immunodeficiency 7
Hypereosinophilia, Recurrent infections OMIM:615387
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating antibody level, Recurrent infections, Pneumonia OMIM:614069
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l... OMIM:301000
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormality of serum cytokine level, Microangiopathic hemolytic anemia, Coombs-posit... ORPHA:464343
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Small epiphyses, Micrognathia, Laryngotracheoma... ORPHA:94068
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, Osteopetrosis, Abnormality of the metaphysis, Coarse metaphyseal trabecularization,... ORPHA:2780
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Pulmonary hemorrhage, Recurrent lower respiratory tract infections, Neutrophilia, He... OMIM:619644
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections OMIM:618985
Dracunculiasis
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j... ORPHA:231
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Legionnaires Disease
Myocarditis, Sepsis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis... ORPHA:549
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Palpitations, Elevated circulating creatine kinase concentration, Raynaud ... ORPHA:206569
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Contr... OMIM:601559
Rheumatic Fever
Myocarditis, Sinusitis, Pericarditis, Abnormal mitral valve morphology, Abnormal aortic valve mor... ORPHA:3099
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Elevated circulating creatine kinase concentra... ORPHA:81
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Antinuclear antibody positivity OMIM:613495
Osteosarcoma
Osteolysis, Joint swelling, Pathologic fracture ORPHA:668
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Genu varum, Abnormal hip joint morphology, Abnormality of the knee, Irregular ace... ORPHA:1159
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis OMIM:618476
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Hepatiti... OMIM:304790
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Respiratory infections in early life, Large for gestational age OMIM:248110
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Joint swelling OMIM:127820
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Blau Syndrome
Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulomatous uveitis,... OMIM:186580
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... OMIM:609529
Lyme Disease
Joint swelling, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Sepsis, Normocytic anemia, Pneumonia, Elevated circulating creatini... ORPHA:247691
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B ce... OMIM:615559
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence... ORPHA:572
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Cardiomyopathy, Splenomegaly, Achalasia, Congestive heart f... ORPHA:3386
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... OMIM:608728
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... OMIM:618806
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Short metacarpal, Joint... ORPHA:93387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Increased... ORPHA:93284
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Familial Afibrinogenemia
Joint swelling ORPHA:98880
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... OMIM:300554
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Congenital hip disloca... ORPHA:93333
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, Thin bony cortex, Overtubu... ORPHA:85184
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Recurrent infections, Cough, Osteomyelitis, Increased circulating I... ORPHA:2314
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... OMIM:300635
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia OMIM:231095
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger clinodactyly OMIM:615923
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Brachydactyly, Mononen Type
Synostosis of carpals/tarsals, Aplasia of the distal phalanx of the 2nd finger, Proximal fibular ... OMIM:301940
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity OMIM:130020
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Increased circu... ORPHA:178320
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... OMIM:123150
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis OMIM:604864
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Tubulointerstitial nephritis, ... ORPHA:183
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Tapered finger, Metaphyseal irregularity, Slender finger, Genu valgum, Pseudoepi... OMIM:601668
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Decreas... OMIM:616100
Retinal Venous Beading
Neutropenia, Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Sacc... OMIM:180080
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatarsal, Genu val... OMIM:271650
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Splenomegaly, Meningitis, Skin rash, Hypo... ORPHA:83317
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis OMIM:234350
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia, Elevated c... OMIM:607115
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Decreased prealbumin level, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropeni... ORPHA:37042
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Immunodeficiency 37
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... OMIM:616098
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Pes p... OMIM:609616
Holoprosencephaly, Recurrent Infections, And Monocytosis
Recurrent skin infections, Recurrent infections, Monocytosis OMIM:610680
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Abnormality of the metaphysis, Osteopenia, Flatte... ORPHA:157965
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... OMIM:614700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Talipes equinovarus, Limb undergrowt... ORPHA:1190
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Brucellosis
Myocarditis, Chorioretinitis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Scleroderma
Right ventricular failure, Syncope, Myocarditis, Pericarditis, Episcleritis, Elevated circulating... ORPHA:801
Pycnodysostosis
Micrognathia, Osteolytic defects of the distal phalanges of the hand, Absent frontal sinuses, Inc... OMIM:265800
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Osteoarthritis, Rhi... OMIM:602111
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand po... ORPHA:1278
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Short tibia, Oligodactyly, Mi... OMIM:251230
Severe Hemophilia A
Limb joint contracture, Synovitis, Joint hemorrhage, Limitation of joint mobility, Progressive jo... ORPHA:169802
Sydenham Chorea
Recurrent streptococcus pneumoniae infections, Septic arthritis, Endocarditis ORPHA:306731
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... ORPHA:93316
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Whipple Disease
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Myositis, Anemia, Arthritis, Sp... ORPHA:3452
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Hypoplasia of the radius, Preaxial ... OMIM:147750
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Short metacarp... OMIM:102370
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Arthralgia of the hip, Hip contracture, Hip osteoarthritis, Abnormality o... ORPHA:99642
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Diastrophic Dysplasia
Micrognathia, Short finger, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowin... ORPHA:628
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... OMIM:241530
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Decreased circulating antibody level, Recurrent infections, Lymphopenia, Eosinophilia OMIM:617425
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Recurrent infections, Reduced natural killer cell count, He... OMIM:618261
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Ret... OMIM:193235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Decreased fibular diameter, Limb undergrowth, Multiple prenatal fra... OMIM:616897
Hemophilia A
Joint hemorrhage, Joint swelling, Abnormality of the elbow ORPHA:98878
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Recurrent infections, Asthma OMIM:618092
Osteopetrosis, Autosomal Recessive 5
Flared metaphysis, Osteopetrosis, Micrognathia OMIM:259720
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... OMIM:616005
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Respiratory distress, Increased circulatin... ORPHA:3392
Omenn Syndrome
Leukocytosis, Sepsis, Erythroderma, Pneumonia, Abnormal lymphocyte morphology, Anemia, Splenomega... ORPHA:39041
Moderate Hemophilia A
Hip contracture, Synovitis, Joint hemorrhage, Limitation of joint mobility, Arthropathy, Joint sw... ORPHA:169805
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of the ulna, Abnormality of femur morphology, Abnormally o... ORPHA:1263
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Arrhythmia, Hypotension ORPHA:188
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Small epiphyses, Micrognathia, Microretrognathia, Hip contracture, Knee dislocation, Pes planus, ... OMIM:618363
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Pulmonary arterial h... ORPHA:809
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Albers-Schönberg Osteopetrosis
Abnormality of epiphysis morphology, Generalized osteosclerosis, Abnormality of the metaphysis, A... ORPHA:53
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent u... ORPHA:29207
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Recurrent infections, Skin rash OMIM:618048
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Chronic oral ca... ORPHA:275
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Respiratory insufficiency, Leukopenia, Monoc... OMIM:612541
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Foot oligodactyly OMIM:601357
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:264700
Rat-Bite Fever
Myocarditis, Sepsis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, ... ORPHA:31205
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Peeling Skin Syndrome 1
Increased circulating IgE level, Asthma OMIM:270300
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Recurrent herpes, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Allergic rhinitis, Anemia, Asthma, Hypoalbuminemia, Eosinophilia... ORPHA:2070
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Lujo Hemorrhagic Fever
Myocarditis, Shock, Leukocytosis, Leukopenia, Subconjunctival hemorrhage, Rhinitis, Fulminant hep... ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancre... ORPHA:99827
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia, Myositis OMIM:253600
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Limited knee extension, Delayed epiphyseal ossification, Limited e... OMIM:600969
Shigellosis
Myocarditis, Sepsis, Hypovolemic shock, Hyponatremia, Leukocytosis, Splenic abscess, Pneumonia, P... ORPHA:810
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Wilson Disease
Hepatitis, Arthritis, Acute hepatitis, Pathologic fracture, Joint swelling ORPHA:905
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:277440
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Listeriosis
Myocarditis, Brain abscess, Sepsis, Septic arthritis, Unusual CNS infection, Granulomatosis, Live... ORPHA:533
Slc35A2-Cdg
Metatarsus adductus, Limb joint contracture, Talipes equinovarus, Aplasia/hypoplasia involving bo... ORPHA:356961
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Recurrent infections, Increased circu... ORPHA:634
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteosclerosis, Hyp... ORPHA:1306
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... OMIM:307200
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984