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Gene: Mmp9 MGI:97011

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Mmp9 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Intermittent Hydrarthrosis
Joint swelling, Knee joint hypermobility, Chondrocalcinosis, Abnormality of the knee ORPHA:329967
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Sinding-Larsen-Johansson Disease
Joint swelling, Osteochondrosis, Painless fractures due to injury, Limitation of knee mobility ORPHA:97337
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
Panner Disease
Joint swelling, Large elbow, Limited elbow extension, Limited elbow movement, Abnormality of uppe... ORPHA:97336
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Limitation of jo... ORPHA:1416
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin, Recurrent infections OMIM:235900
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral... ORPHA:85435
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B ... OMIM:212050
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis, Recurrent bronchitis, Autoimmunity OMIM:216950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating ... OMIM:619632
Mueller-Weiss Syndrome
Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... ORPHA:566943
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Tibial Hemimelia
Absent tibia OMIM:275220
Osteochondritis Dissecans
Joint swelling, Decreased hip abduction, Joint stiffness, Limited elbow extension, Limited elbow ... ORPHA:2764
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... ORPHA:217390
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis ORPHA:50809
Osteoarthritis Susceptibility 3
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... OMIM:607850
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Glycoprotein Storage Disease
Gout OMIM:232900
Immunodeficiency 24
Lymphopenia, Decreased circulating IgG level, Defective T cell proliferation, Decreased specific ... OMIM:615897
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Increased circulatin... OMIM:610163
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eczema, Atopic d... OMIM:243700
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Tenosynovial Giant Cell Tumor
Joint swelling, Joint stiffness, Chondrocalcinosis, Abnormality of the ankles, Abnormal hip joint... ORPHA:66627
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... OMIM:615767
Cranio-Osteoarthropathy
Joint swelling, Joint stiffness, Eczema, Osteoarthritis, Arthritis, Abnormality of the knee ORPHA:1525
Congenital Atransferrinemia
Recurrent infections, Arthritis ORPHA:1195
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... OMIM:300400
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... ORPHA:2098
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Craniometaphyseal Dysplasia
Osteopetrosis, Abnormal metaphysis morphology, Craniofacial hyperostosis ORPHA:1522
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... OMIM:147060
Immunodeficiency 95
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... OMIM:619773
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ... OMIM:619752
Osteochondrosis Of The Tarsal Bone
Chondritis, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Pedal edema, Tarsal stippling... ORPHA:563991
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm... ORPHA:93308
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Recurren... ORPHA:331206
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Splenomegaly, Panhypogammaglobulinemia, Pneu... OMIM:269840
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D... OMIM:615615
Kienbock Disease
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans ORPHA:97332
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive ... OMIM:617241
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly... OMIM:607271
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad... OMIM:271530
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Hypochondroplasia
Aplasia/hypoplasia of the extremities, Flared metaphysis, Brachydactyly, Genu varum, Limited elbo... OMIM:146000
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymp... OMIM:618986
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... ORPHA:1802
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, Arthritis... OMIM:601457
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmunity, Pleural... ORPHA:85414
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Irregular femoral epiphysis, Genu varum, Upper-l... OMIM:618728
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Farber Lipogranulomatosis
Joint swelling, Hyperextensibility of the finger joints, Ulnar deviation of the wrist, Arthritis,... OMIM:228000
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... OMIM:105835
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... ORPHA:2501
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Lethal Recessive Chondrodysplasia
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... ORPHA:1423
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... ORPHA:53697
Rheumatoid Arthritis
Joint stiffness, Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positi... OMIM:180300
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
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
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Generalized joint laxity,... OMIM:132400
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Ige Responsiveness, Atopic
Asthma, Eczema, Increased circulating IgE level, Allergic rhinitis OMIM:147050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, Recurrent upper respiratory tract... OMIM:602450
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent bronchitis, Neutropenia, Agamma... OMIM:613501
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis, Pustule, Septic arthritis ORPHA:36237
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Broad femoral neck, Short femoral... OMIM:609324
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... OMIM:301082
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi... OMIM:618282
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Generalized joint laxity, Broad femoral neck, Short femoral neck, Genu varu... OMIM:609325
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... OMIM:618394
Hemochromatosis Type 4
Joint swelling, Joint dislocation, Limitation of joint mobility ORPHA:139491
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Asthma, Eczema, Monocytosis, Leukopenia, Bone marrow hypocellularity, Refractory anemia, Acute my... OMIM:616871
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Rec... OMIM:615285
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Progressive Pseudorheumatoid Dysplasia
Joint swelling, Joint stiffness, Joint contracture of the hand, Osteoarthritis, Camptodactyly of ... OMIM:208230
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Iridocyclitis, Joint stiffness, Oligoarthritis, Flexion contracture, Arthritis, A... ORPHA:85408
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease... OMIM:619510
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Juvenile Idiopathic Arthritis
Joint swelling, Joint stiffness, Joint dislocation, Skin rash, Arthritis, Uveitis, Autoimmunity, ... ORPHA:92
Peeling Skin Syndrome 1
Erythroderma, Asthma, Eosinophilia, Increased circulating IgE level OMIM:270300
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Flared... OMIM:259700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... ORPHA:90283
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... OMIM:208250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Abnormality of the ankles, Protrusio ... ORPHA:2619
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Short femoral neck, Genu varum, Hypoplasia of the odontoid p... OMIM:184255
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, Abnormal circulat... ORPHA:829
Netherton Syndrome
Asthma, Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Recurrent infectio... OMIM:256500
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... ORPHA:166016
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Abnormal pleura morphology, Arthritis ORPHA:2582
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... OMIM:613502
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Congenital Enterovirus Infection
Skin rash, Hyperammonemia, Leukocytosis, Sepsis, Leukopenia, Myocarditis, Hypotension, Abnormal m... ORPHA:292
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Rhinorrhea, Pneumonia, Osteomyelitis, Chron... ORPHA:1163
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... ORPHA:276
Pseudopseudohypoparathyroidism
Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4... ORPHA:79445
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Bacterial Toxic-Shock Syndrome
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... ORPHA:36234
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses OMIM:264010
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elev... OMIM:308240
Immunodeficiency 23
Asthma, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, Inc... OMIM:615816
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Myocarditis, B l... ORPHA:2442
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... OMIM:215045
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... OMIM:601492
Igg4-Related Aortitis
Asthma, Increased circulating antibody level, Elevated circulating C-reactive protein concentrati... ORPHA:449400
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Familial Afibrinogenemia
Joint swelling ORPHA:98880
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Generalized Eruptive Histiocytosis
Histiocytosis, Maculopapular exanthema, Leukemia, Hypereosinophilia ORPHA:157991
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, B lymphocytopenia, Recurrent otitis media OMIM:616941
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... ORPHA:2204
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Short femur, Fractures of the long bones, Femoral bowing, Osteolysis, In... OMIM:602080
Majeed Syndrome
Joint swelling, Osteomyelitis, Inflammatory abnormality of the skin, Flexion contracture, Skin rash OMIM:609628
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Pulmonary emb... ORPHA:464343
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... OMIM:608971
Caffey Disease
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... OMIM:114000
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... ORPHA:1952
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Brachymetatarsus Iv
Short 4th toe, Short fourth metatarsal OMIM:113475
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Eosinophilia, Recurrent urinary tract infections, Decreased circ... ORPHA:90045
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Omenn Syndrome
Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymu... OMIM:603554
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Q Fever
Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Increased circulating antibody lev... ORPHA:781
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Roifman Syndrome
Eosinophilia, Eczema, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent pneumon... ORPHA:353298
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Upper limb... ORPHA:93351
Immunodeficiency 7
Hypereosinophilia, Recurrent infections OMIM:615387
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Micr... OMIM:601561
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Maculopapu... OMIM:619644
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Increased bone mineral density, Osteopetrosis, Micrognathia, High iliac wing, S... ORPHA:2780
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Dracunculiasis
Skin rash, Flexion contracture, Arthritis, Limitation of joint mobility, Recurrent cutaneous absc... ORPHA:231
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... ORPHA:94068
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections, Chronic bronchitis, Pneumonia OMIM:614069
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Arrhythmia, Myocarditis, Hypotensi... ORPHA:549
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Increased circulating IgE level, Recurrent infections, Thyroiditis OMIM:618985
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Palpitations, Elevated circulating creatine kinase concentration, ... ORPHA:206569
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Rheumatic Fever
Abnormal mitral valve morphology, Sinusitis, Endocarditis, Abnormal aortic valve morphology, Myoc... ORPHA:3099
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections OMIM:613495
Osteosarcoma
Joint swelling, Osteolysis, Pathologic fracture ORPHA:668
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Joint swelling OMIM:127820
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Metaphyseal widening OMIM:618476
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, T lymphocytopeni... OMIM:618108
Progressive Pseudorheumatoid Arthropathy Of Childhood
Joint swelling, Joint contracture of the hand, Enlarged interphalangeal joints, Abnormal hip join... ORPHA:1159
Antisynthetase Syndrome
Telangiectasia of the skin, Skin rash, Elevated circulating creatine kinase concentration, Myosit... ORPHA:81
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune thrombocyt... OMIM:304790
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio... OMIM:609529
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... OMIM:166260
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Wiskott-Aldrich Syndrome
Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decr... OMIM:301000
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Median cleft palate, Respiratory infections in early life OMIM:248110
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... ORPHA:70593
Lyme Disease
Joint swelling, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Blau Syndrome
Joint swelling, Cystoid macular edema, Iritis, Eczema, Camptodactyly of finger, Arthritis, Uveiti... OMIM:186580
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Skin rash, Raynaud phenomenon, Hypertension, Sepsis, Macula... ORPHA:247691
Brachydactyly Type E
Short distal phalanx of finger, Short metacarpal, Type E brachydactyly, Aplasia/Hypoplasia of the... ORPHA:93387
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Increased p... OMIM:615559
American Trypanosomiasis
Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Infectious encephalitis, Achalasia, Cardiomyopa... ORPHA:3386
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... OMIM:600802
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hypersplenism, Uveitis, Bone marrow hypoc... ORPHA:3261
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Knee osteoar... ORPHA:93284
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs... OMIM:201170
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:617388
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short femur, Micrognathia, Radio... ORPHA:1988
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... OMIM:616005
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Folliculitis, Hemophagocytosis, Recurrent ... OMIM:300635
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral n... ORPHA:85184
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, ... OMIM:616576
Diastrophic Dysplasia
Hip contracture, Hypoplastic cervical vertebrae, Talipes equinovarus, Costal cartilage calcificat... OMIM:222600
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density, Diaphyseal dysplasia OMIM:231095
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux OMIM:615923
Ehlers-Danlos Syndrome, Hypermobility Type
Osteoarthritis, Joint dislocation, Joint laxity, Joint hypermobility OMIM:130020
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infections, Increased c... OMIM:618495
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Joint stiffness, Heberden's node, Knee osteoarthritis OMIM:604864
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ne... OMIM:180080
Jackson-Weiss Syndrome
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar... OMIM:123150
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Slender finger, Flared metaphysis, Broad femoral neck, Flattened epiphy... OMIM:601668
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Abnormal pericardium morphology, Skin rash, Recurrent intrapulmonary hemorrhage, Eosin... ORPHA:183
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Hypoplastic sacrum, Osteoarthritis, Broad femoral neck, Upper l... OMIM:271650
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Cough, Recurrent infections... ORPHA:2314
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... ORPHA:2639
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Scrub Typhus
Skin rash, Splenomegaly, Hypotension, Myocarditis, Anterior uveitis, Meningitis, Infectious encep... ORPHA:83317
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Macu... ORPHA:891
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... ORPHA:56304
Acute Lung Injury
Respiratory distress, Abnormality of tumor necrosis factor secretion, Increased circulating inter... ORPHA:178320
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis OMIM:234350
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin ... ORPHA:37042
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Micrognathia, Brachydactyly, Broad thumb, Short metatarsal, Short metacarpal, P... ORPHA:1278
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent infections, Recurrent skin infections OMIM:610680
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Broad femoral neck, Flattened ep... ORPHA:157965
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Recurrent infections, Infectious encephalitis, Dec... OMIM:616098
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Brucellosis
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pneumonia, Knee... ORPHA:1304
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... OMIM:613101
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Scleroderma
Keratitis, Transient ischemic attack, Intestinal bleeding, Osteomyelitis, Raynaud phenomenon, Rig... ORPHA:801
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Sydenham Chorea
Recurrent streptococcus pneumoniae infections, Endocarditis, Septic arthritis ORPHA:306731
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Intermittent thrombocytopenia, Decreased circulating antibody l... OMIM:616740
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... OMIM:616100
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Weismann-Netter Syndrome
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... OMIM:112350
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Progressive joint destruction, Synovitis, Limb joint contractur... ORPHA:169802
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Flattened femoral head, Coxa vara, Broad femoral neck, Short femoral neck, Arthr... ORPHA:99642
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Whipple Disease
Splenomegaly, Anemia, Myositis, Myocarditis, Hypotension, Arthritis, Myocardial infarction, Uveit... ORPHA:3452
Diastrophic Dysplasia
Joint stiffness, Hypoplastic cervical vertebrae, Increased bone mineral density, Micrognathia, Ca... ORPHA:628
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... OMIM:211350
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Brachydac... ORPHA:1860
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypochromic anemia, P... OMIM:618213
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Recurrent infections, Partial absence o... OMIM:618261
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... ORPHA:83468
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Sepsis, Leukopenia, Congenital ag... OMIM:267500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level, Recurrent infections, Erythroderma OMIM:617425
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Lymphocytosis, Interstitial pneumonitis, Eosinophilia, Myocarditis, Hepatitis... ORPHA:139402
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morphology, Pneumonia, Eryt... ORPHA:39041
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Hemophilia A
Joint hemorrhage, Joint swelling, Abnormality of the elbow ORPHA:98878
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia, Recurrent infections OMIM:618092
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Adducted thumb, Osteopenia, Flared ... OMIM:616897
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Arthralgia of the hip, Upper limb undergrowth, Abnormal hand morphology, Genu v... ORPHA:93307
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Micromelia... OMIM:251230
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Hip contracture, Arthropathy, Synovitis, Limitation of joint mo... ORPHA:169805
Systemic Capillary Leak Syndrome
Pancreatitis, Leukocytosis, Arrhythmia, Hypotension, Myocarditis, Pericarditis ORPHA:188
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Advanced ossification of carpal bones, Microretrognathia, Knee dislocation, Micr... OMIM:618363
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Arthritis, Malar rash, Antinuclear antibody positivity OMIM:609939
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Adams-Oliver Syndrome 3
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... OMIM:614814
Mixed Connective Tissue Disease
Gastritis, Skin rash, Splenomegaly, Leukopenia, Myositis, Myocarditis, Arthritis, Keratoconjuncti... ORPHA:809
Reactive Arthritis
Joint swelling, Joint stiffness, Osteomyelitis, Pustule, Recurrent urinary tract infections, Infl... ORPHA:29207
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Ost... ORPHA:53
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Anemia, Maculopapular exanthema, Sepsis, Lympha... ORPHA:31205
Achondrogenesis Type 2
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short ribs, Hypopla... ORPHA:93296
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, E... ORPHA:2070
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:618048
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... OMIM:601495
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Lymphopenia, Skin rash, Leukocytosis, Macu... ORPHA:319213
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hemothorax, Myocarditis, Thrombocytope... ORPHA:99827
Atelosteogenesis Type Iii
Laryngotracheomalacia, Talipes equinovarus, Absent humerus, Hand clenching, Knee dislocation, Dis... ORPHA:56305
Listeriosis
Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Septic arthritis, U... ORPHA:533
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Netherton Syndrome
Asthma, Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Emphysema,... ORPHA:634
Wilson Disease
Joint swelling, Pathologic fracture, Arthritis, Hepatitis, Acute hepatitis ORPHA:905
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Pustule, Skin rash, Osteopenia, Fused cervical vertebrae, Stomatit... OMIM:612852
Shigellosis
Splenic abscess, Acute colitis, Leukocytosis, Hypovolemic shock, Sepsis, Peritonitis, Abscess, My... ORPHA:810
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Osteopetrosis, Autosomal Recessive 7