Gene Summary

Name:
bobby sox HMG box containing
Synonyms:
5530401J07Rik,  5730403O13Rik

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
decreased body length Bbxtm1a(EUCOMM)Wtsi HOM Early adult 8.60×10-16
decreased lean body mass Bbxtm1a(EUCOMM)Wtsi HOM Early adult 1.10×10-08
decreased bone mineral content Bbxtm1a(EUCOMM)Wtsi HOM Early adult 3.61×10-07
abnormal tooth morphology Bbxtm1a(EUCOMM)Wtsi HOM Early adult 2.37×10-06
decreased bone mineral density Bbxtm1a(EUCOMM)Wtsi HOM Early adult 3.68×10-06
increased thermal nociceptive threshold Bbxtm1a(EUCOMM)Wtsi HOM Early adult 1.22×10-10
decreased body weight Bbxtm1a(EUCOMM)Wtsi HOM   Early adult 6.27×10-07
abnormal cranium morphology Bbxtm1a(EUCOMM)Wtsi HOM Early adult 4.34×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 82 images

Human diseases caused by Bbx 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia, Increased circulating IgA level, Decreased ... OMIM:300636
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Reduced bone mineral ... ORPHA:2501
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Gingivitis, Clubbing, Premature loss of teet... OMIM:162700
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo... ORPHA:53697
Pyle Disease
Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of primary teeth,... OMIM:265900
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu... OMIM:618534
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... ORPHA:83451
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Abnormal c... OMIM:308230
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density ORPHA:1653
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... OMIM:618363
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Coxa vara,... ORPHA:174
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet... ORPHA:63442
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Increased circ... ORPHA:1858
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Failure to thrive, Abnormal circulating IgM level, Increased circulating IgA level,... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Amelogenesis imperfecta, Increa... OMIM:612783
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Conical incisor, Increased circulating IgA ... OMIM:300291
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Conical tooth, Osteopenia, Failure to thrive, Increased circulat... ORPHA:98813
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Reduced CD95... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... ORPHA:169154
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl... OMIM:144750
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Malar flattening, Short 4th metacarpal, ... OMIM:118651
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Hypophosphatasia, Adult
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Recur... OMIM:146300
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Chronic sinusitis, Agammaglobul... OMIM:613502
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Failure to thrive, Increased circulating IgA level, Eclabion OMIM:616395
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Limited ... ORPHA:93346
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... ORPHA:1310
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Short long bone, Macroglossia ORPHA:1423
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating IgA level, Recurrent sinusitis, De... OMIM:613493
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort... ORPHA:210110
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb... OMIM:618728
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtrum, Irregul... OMIM:184260
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul... OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Diastrophic Dysplasia
Ulnar deviation of finger, Short finger, Irregular epiphyses, Genu valgum, Hip contracture, Hitch... OMIM:222600
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hypochondroplasia
Flared metaphysis, Trident hand, Malar flattening, Limited elbow extension, Brachydactyly, Short ... OMIM:146000
Mu-Heavy Chain Disease
Osteoporosis, Weight loss, Osteolysis, Increased circulating antibody level ORPHA:100024
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Decreased circulating IgA level, Small for gestational age, Generalized bone demin... OMIM:215250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Angiostrongyliasis
Stiff neck, Increased circulating specific IgE antibody, Increased circulating IgA level, Increas... ORPHA:74
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Narrow mouth, Limited elbow exten... OMIM:614078
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Increased circulating IgA level, Limitation of joint mobility, Art... ORPHA:343
Multiple Myeloma
Osteopenia, Pathologic fracture, Increased circulating IgA level, Weight loss, Increased circulat... ORPHA:29073
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:300861
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu... OMIM:600002
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Chronic sinusitis, Agammaglobul... OMIM:612692
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Dental crowding, Increased circulating IgE level, Clubbing, Macrog... OMIM:618523
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Osteop... OMIM:620099
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Joint hypermobility, Adducted thumb, Short long bone, Advanced oss... OMIM:620269
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Bicuspid aortic valve, Atrial septal defect, ... OMIM:617744
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Abnormality of the dentition, Carious teeth, Abnormal epiphysis m... ORPHA:53
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Pgm3-Cdg
Bone marrow hypocellularity, Failure to thrive, Increased circulating IgE level, Osteomyelitis, C... ORPHA:443811
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Joint stiffness, Increased circulating IgA level, Failure to thrive OMIM:615934
Achondrogenesis Type 2
Hypoplastic ilia, Absent vertebral body mineralization, Delayed pubic bone ossification, Delayed ... ORPHA:93296
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, Broad long b... OMIM:269300
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, Aphthous ulc... OMIM:615767
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Abnormality of the dentition, Increased circulating IgE level, Osteomyelitis, Decreased circulati... OMIM:618282
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level, Failure to thrive OMIM:617388
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Accessory oral frenulum, Patent foramen ovale, Brachyda... ORPHA:88630
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Recur... OMIM:240500
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Oral mucosal blisters ORPHA:555905
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Retrognathia, Decreased circulating IgA level, Decreased circula... OMIM:614069
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Genu valgum, Hypophosphatemic rickets, Pulmonic stenosis, Hypoplasia of teeth, Gen... OMIM:613312
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbow extension,... OMIM:608728
Epilepsy-Telangiectasia Syndrome
Short 5th finger, Abnormality of the dentition, Long philtrum, Decreased circulating IgA level, D... ORPHA:1951
Pycnodysostosis
Aplastic clavicle, Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Dela... OMIM:265800
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Increased circulating interleukin 8 concentration, Increas... OMIM:256040
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Recurrent fractures OMIM:126550
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Decreased circulating total IgM, Decreased ... OMIM:618969
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim... OMIM:259710
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin... ORPHA:3261
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e... OMIM:277440
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregularity, Short meta... ORPHA:457395
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Small for gestational age, Tooth agenesis, Decreased calvarial oss... OMIM:616229
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Decreased ... OMIM:619281
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Paraproteinemia, Micrognathia, High palate, Flexion contracture ORPHA:171442
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Immunodeficiency 18
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... OMIM:615615
Thrombocytopenia 1
Increased circulating IgE level, Joint hemorrhage, Increased circulating IgA level OMIM:313900
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal dental ename... ORPHA:582
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Alg12-Cdg
Sandal gap, Failure to thrive, Abnormal circulating IgM level, Biventricular hypertrophy, Overlap... ORPHA:79324
Immunodeficiency 52
Decreased circulating IgA level, Defective T cell proliferation, Failure to thrive, Decreased cir... OMIM:617514
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, Patent foramen ... OMIM:619184
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... OMIM:615777
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Recur... OMIM:607594
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp... ORPHA:89936
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Xq28 (MECP2) duplication
Decreased circulating IgA level, Narrow mouth, Malar flattening, Failure to thrive DECIPHER:45
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Failure to thrive in infancy, Decreased circulating IgA level, O... OMIM:619510
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Decreased body weight, Increased body we... ORPHA:2298
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Wide distal femoral metaphysis, Iliac crest... OMIM:613320
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Pycnodysostosis
Small hand, Carious teeth, Hypoplastic iliac wing, Micrognathia, Delayed eruption of primary teet... ORPHA:763
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho... OMIM:215150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Micrognathia, Protruding tongue, Malar flatte... OMIM:242860
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho... ORPHA:1798
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Recurrent ap... OMIM:612782
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Long philtrum, Thick lower lip vermilion, Thick upper... OMIM:611717
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level, Arthritis, Oral ulcer OMIM:260920
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Malar flattening, Hypoplastic pubic bone, Me... OMIM:614524
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met... OMIM:190350
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Failure to thrive in infancy, Reduced delayed hypersensitivity, ... OMIM:617241
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Carious teeth, Failure to thrive, Calvarial hyperostosis OMIM:612714
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Decreased body... OMIM:271640
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Sandal gap, Short tibia, Failure to thrive, Decreased circulatin... OMIM:607143
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis... ORPHA:93316
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Long philtrum, Decreased circulating IgA level, Large for gestati... OMIM:616638
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Bicuspid aortic valve, Double outlet right ventricle, Short long bone, Ve... OMIM:618845
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Dysplasia of the f... ORPHA:94068
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Obesity, Genu valgum, Joint hyper... OMIM:250420
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Carious teeth, Decreased skull ossification, Stenosis of the medullary cavity of the ... ORPHA:93324
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Broad long bones, Micrognathia, Mala... OMIM:224400
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Abnormal heart morphology, Micrognathia, Decreased skull ossification, Smooth philt... OMIM:263210
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Increased circulating IgE le... ORPHA:2314
Metaphyseal Chondrodysplasia, Jansen Type
Tooth malposition, Metaphyseal cupping, Osteopenia, Pathologic fracture, Micrognathia, Hip contra... OMIM:156400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Osteopenia, Restrictive cardiomyopathy, Slender long bone, Downturned corner... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iib
Retrognathia, Overlapping fingers, Decreased circulating IgA level, High palate, Decreased circul... OMIM:606056
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level, Clubbing of fingers OMIM:618982
Ellis-Van Creveld Syndrome
Common atrium, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption ... OMIM:225500
Primary Biliary Cholangitis
Osteoporosis, Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Schnitzler Syndrome
Increased bone mineral density, Increased circulating IgM level, Arthritis ORPHA:37748
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Osteopenia, Decreased lymphocyte proliferation in response to mit... ORPHA:221139
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Mandibular prognathia, Carious teeth, Widely space... OMIM:253010
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Postinfectious Vasculitis
Bacterial endocarditis, Abnormality of humoral immunity, Cardiomyopathy, Increased circulating an... ORPHA:48435
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Long philtrum, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Thick upper lip vermili... ORPHA:163654
Immunodeficiency 112
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620449
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fr... OMIM:259700
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Osteoporosis OMIM:620532
Activated Pi3K-Delta Syndrome
Failure to thrive, Decreased circulating antibody level, Chronic sinusitis, Arthritis, Increased ... ORPHA:397596
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... ORPHA:275
Monosomy 18Q
Aortic valve stenosis, Mandibular prognathia, Secundum atrial septal defect, Downturned corners o... ORPHA:1600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Ventricular septa... ORPHA:2256
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Joint ... ORPHA:2502
Wiskott-Aldrich Syndrome
Gingival bleeding, Decreased specific anti-polysaccharide antibody level, Increased circulating I... OMIM:301000
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Broad hallux, Failure to thrive, Abnormal heart morphology, Decr... OMIM:617062
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ... OMIM:200610
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Failure to thrive, Lack of T cell function, Increased circulatin... ORPHA:277
Immunodeficiency 27A
Hypoplasia of the femoral head, Weight loss, Salmonella osteomyelitis, Increased circulating IgG ... OMIM:209950
Xylt1-Cdg
Broad thumb, Clinodactyly, Flared metaphysis, Long philtrum, Joint hypermobility, Short clavicles... ORPHA:370930
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Carious teeth, Increased circulating IgE level, Lip fissure, Aph... OMIM:620603
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:618394
Stuve-Wiedemann Syndrome 1
Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon... OMIM:601559
Frank-Ter Haar Syndrome
Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Promine... OMIM:249420
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr... ORPHA:50814
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F... ORPHA:1106
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, High palate, Short foot, Pierr... OMIM:611209
Mogs-Cdg
Decreased circulating IgG level, Retrognathia, Overlapping fingers, Decreased circulating IgA lev... ORPHA:79330
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Arthritis, Decreased circulatin... OMIM:616100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph... ORPHA:93352
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Abnormality of the submandibular glands, Enlargement of parotid... ORPHA:79078
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Increased circulating antibody level, Decreased circulating complement C4 co... OMIM:615559
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Dumbbell-shaped femur, Abnormality of the e... ORPHA:485
Celiac Disease, Susceptibility To, 1
Rickets, Failure to thrive, Recurrent aphthous stomatitis, Decreased circulating IgA level, Weigh... OMIM:212750
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplastic ilia, Hypoplastic acetabulae, Broad femoral neck, Failure to th... ORPHA:239
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced tarsal ossification, Malar flattening, Dumbbell-shaped long bone, ... OMIM:269250
Faciocardiomelic Syndrome
Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long philtrum, La... OMIM:612731
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Slender long bone, Clinodactyly, Failure to thrive in infancy, Decreased circulating IgA level, L... OMIM:613385
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Camptodactyly, Short long bone OMIM:619751
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level OMIM:620565
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal widening, Short long bone, Squar... OMIM:618961
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology ORPHA:482
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Vent... OMIM:617022
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Congenital hip dislocation, Mandibular prognathia, Osteopenia, F... OMIM:616007
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Interstitial Lung Disease 2
Increased circulating antibody level, Clubbing of fingers OMIM:178500
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Long philtru... OMIM:228520
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Hypoplasia of the nasal ... ORPHA:93357
Familial Osteodysplasia, Anderson Type
Tooth malposition, Aplastic clavicle, Bifid femur, Carious teeth, Failure of eruption of permanen... ORPHA:2769
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Limitation of joint mobility, Broad long bones, Clubbing of fingers, Abnormal h... ORPHA:1865
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu... ORPHA:169160
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Abnormality of the dentition, Limitation of joint mobility, Clino... ORPHA:93315
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Ventricular septal defect... ORPHA:96097
Achondroplasia
Hip joint hypermobility, Obesity, Trident hand, Limited elbow extension, Knee joint hypermobility... ORPHA:15
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Agenesis of permanent teeth, S... OMIM:614091
Immunodeficiency 22
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci... OMIM:615758
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased sp... OMIM:614700
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Aplasia/Hypoplasia... ORPHA:2909
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615577
Camurati-Engelmann Disease
Bone marrow hypocellularity, Mandibular prognathia, Carious teeth, Slender build, Sclerosis of sk... OMIM:131300
Campomelic Dysplasia
Small abnormally formed scapulae, Tracheomalacia, Femoral bowing, Micrognathia, Recurrent fractur... ORPHA:140
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Increased circulating antibody level OMIM:615285
Geleophysic Dysplasia 1
Aortic valve stenosis, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short me... OMIM:231050
Rhyns Syndrome
Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck OMIM:602152
Chilblain Lupus
Finger swelling, Increased circulating antibody level ORPHA:90280
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Genu valgum, Ventricular septal defect, Orofacial cleft, Brachydactyly, Short long bone,... OMIM:615630
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu... ORPHA:331206
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Joint stiffness, Femor... OMIM:608940
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Growth arrest lines, Abnormal pelvic girdle bone morphology, Failure to thrive, Increased circula... OMIM:102700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Cleft lip, Natal tooth, Short tibia, Microretrognathia, Preaxial polyda... OMIM:616300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Decreased cranial base ossification, Dumbbe... OMIM:151210
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Obesity, Brachydactyly, Short long bone OMIM:615633
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Osteopenia, Failure to thrive, Cardiomyopathy, Decreased circula... OMIM:212065
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Metaphyseal cupping, Short toe... OMIM:250220
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Limitation of joint mobility, Progress... OMIM:252500
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Irregular carpal bones, ... OMIM:252600
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Abnormality of the dentition, Oral leukoplakia, Failure to thriv... OMIM:620040
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu... ORPHA:276
Rothmund-Thomson Syndrome Type 2
Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, High pala... ORPHA:221016
Agammaglobulinemia, X-Linked
Cor pulmonale, Decreased circulating IgG level, Septic arthritis, Decreased circulating IgA level... OMIM:300755
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgG level, Small hand, Decreased circulating IgA level, Micrognathia, Thick... OMIM:620005
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Long philtrum, Decreased circulating IgA level, Large for gestational age, Open mouth, Wide mouth ORPHA:457485
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Decreased circulat... ORPHA:90362
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton... OMIM:613091
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Shortening of all phalanges... OMIM:114290
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Failure to thrive OMIM:616069
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Abnormal epiphysis morphology, Metaphyseal spurs, Flared metap... ORPHA:85167
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerosis of skull base, I... ORPHA:2905
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo... OMIM:182250
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Malar flattening, Hand polydact... OMIM:210900
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Failure to thrive, Decreased circulating IgA level, Osteoporosis, Flexion contracture OMIM:613327
Papa Syndrome
Limitation of joint mobility, Arthritis, Increased circulating antibody level ORPHA:69126
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Carious teeth, Craniofa... ORPHA:1328
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Micrognathia, Abnormal ossification involving the ... ORPHA:1190
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Sclerosis of... ORPHA:3003
Leishmaniasis
Abnormal oral mucosa morphology, Abnormal oral cavity morphology, Weight loss, Increased circulat... ORPHA:507
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Limitation of movement at ankles, Limited hip movement, Limited ... ORPHA:206594
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Inflammatory Pseudotumor Of The Liver
Weight loss, Increased hepatitis B virus antibody level ORPHA:90003
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... OMIM:308240
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Genu valgum, Bowin... ORPHA:321
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Increased susceptibility to fracture... ORPHA:77261
Dubowitz Syndrome
Decreased circulating IgG level, Carious teeth, Velopharyngeal insufficiency, Delayed eruption of... OMIM:223370
Gaucher Disease Type 1
Gingival bleeding, Osteopenia, Erlenmeyer flask deformity of the femurs, Pathologic fracture, Inc... ORPHA:77259
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Hypertrophic cardiomyopathy, Acetabular dysplasia, Flared iliac wing... OMIM:617303
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphysis, Short 5t... OMIM:618019
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Tetralogy of Fall... OMIM:617925
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619802
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti... OMIM:187600
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic valve calcification, Increased circulating antibody level OMIM:114065
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Prolidase Deficiency
High palate, Micrognathia, Failure to thrive, Increased circulating antibody level OMIM:170100
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Decrea... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Failure to thrive, Increased circulating antibody level, Arthritis, Sinusitis, F... OMIM:617591
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Aspergillosis
Increased circulating IgE level, Osteomyelitis, Abnormal long bone morphology, Sinusitis ORPHA:1163
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level OMIM:616005
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal def... OMIM:615503
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Failure to thrive, Increased circulating IgE level, Osteomyelitis, Recurrent sinusitis, Decreased... OMIM:243700
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, Recurrent sinusitis ORPHA:217390
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Chronic sinusitis, Recurrent si... ORPHA:420741
Immunodeficiency 23
Failure to thrive, Increased circulating IgE level, Joint hypermobility, Increased circulating Ig... OMIM:615816
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:275350
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad long bones, Micrognathia, Broad phalanx, High palate, Short metacarpal, Knee flexion contra... OMIM:271665
Bloom Syndrome
Decreased circulating IgG level, Cheilitis, Retrognathia, Decreased circulating IgA level, Microg... ORPHA:125
Tularemia
Oral ulcer, Increased circulating antibody level ORPHA:3392
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Subperiosteal bone formation, Short... OMIM:618188
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Failure to thrive, Join... OMIM:300972
Gaucher Disease
Gingival bleeding, Osteopenia, Aortic valve calcification, Osteolysis, Pathologic fracture, Osteo... ORPHA:355
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Al Amyloidosis
Abnormal cardiac ventricle morphology, Abnormal heart morphology, Hypertrophic cardiomyopathy, Ab... ORPHA:85443
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr... ORPHA:183675
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Cystic Echinococcosis
Abnormal heart morphology, Weight loss, Bone cyst, Increased circulating antibody level ORPHA:400
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Failure to thrive OMIM:618495
Cog1-Cdg
Osteopenia, Failure to thrive, Long philtrum, Micrognathia, Narrow mouth, Thin upper lip vermilio... ORPHA:263508
Lead Poisoning
Abnormality of humoral immunity, Delayed eruption of teeth, Cranial hyperostosis, Increased circu... ORPHA:330015
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Narrow mouth, Malar flattening, Bowing of the long bones, Short long bone OMIM:224410
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hypoplastic left... OMIM:306955
Alg9-Cdg
Bifid uvula, Microretrognathia, Flared metaphysis, Long philtrum, Abnormal heart morphology, Peri... ORPHA:79328
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Failure to thrive OMIM:614328
Viss Syndrome
Increased circulating IgE level, Genu valgum, Cleft soft palate, Micrognathia, Mitral valve prola... OMIM:619472
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Long philtrum, Widely spaced teeth, Trident pelvis, Short lingual frenulum, Short humerus, Microd... OMIM:619479
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Short toe, Lobulated tongue, Short finger, Hamartoma of tongue... OMIM:269860
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Failure to thrive, Parotitis, Decreased circul... OMIM:620376
Opsismodysplasia
Metaphyseal cupping, Long philtrum, Short phalanx of finger, Short long bone, Hypoplastic pubic b... OMIM:258480
Zika Virus Disease
Increased circulating IgM level, Arthritis ORPHA:448237
Pyoderma Gangrenosum
Rheumatoid arthritis, Increased circulating antibody level ORPHA:48104
Gm1 Gangliosidosis Type 1
Long philtrum, Cardiomyopathy, Gingival overgrowth, Broad long bone diaphyses, Acetabular dysplas... ORPHA:79255
Alveolar Echinococcosis
Abnormal pericardium morphology, Increased circulating antibody level, Weight loss, Abnormal pelv... ORPHA:284
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Decreased c... OMIM:208900
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive OMIM:256500
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Q Fever
Abnormal heart valve morphology, Osteomyelitis, Increased circulating antibody level, Weight loss... ORPHA:781
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Failure to thrive, Arthritis OMIM:304790
Simpson-Golabi-Behmel Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Increased circulating IgE level, Ventricular sept... ORPHA:373
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Abnormal heart morphology, Hypertro... ORPHA:505248
Autoimmune Hepatitis
Increased circulating IgG level, Arthritis, Increased circulating antibody level ORPHA:2137
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level, Weight loss, Arthritis, P... OMIM:181000
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Osteo... OMIM:619381
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss ORPHA:2902
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Failure to thrive, Oral ulcer, Panhypogammaglobulinemia OMIM:602450
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating IgA level, Constrictive pericarditis, Dec... ORPHA:90363
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Atrioventricular canal defect, Postaxial polydactyly, Short clavicles, Med... OMIM:617088
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty... OMIM:263520
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Pneumocystosis
Weight loss, Increased circulating antibody level ORPHA:723
Selective Igm Deficiency
Rheumatoid arthritis, Paraproteinemia, Decreased specific antibody response to vaccination, Recur... ORPHA:331235
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Coccidioidomycosis
Osteomyelitis, Abnormal long bone morphology, Abnormal metacarpal morphology, Arthritis, Broad me... ORPHA:228123
Lysinuric Protein Intolerance
Osteopenia, Abnormality of humoral immunity, Failure to thrive, Pathologic fracture, Reduced circ... ORPHA:470
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Multiple muscular ventricular septal defects, Failure to thrive,... OMIM:615508
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Brucellosis
Hip osteoarthritis, Failure to thrive, Sacroiliac arthritis, Osteomyelitis, Abnormal aortic valve... ORPHA:1304
Aapoaiv Amyloidosis
Paraproteinemia, Cardiac amyloidosis, Hypertrophic cardiomyopathy ORPHA:439232
Encephalitis Lethargica
Stiff neck, Increased circulating antibody level ORPHA:83600
Scleromyxedema
Paraproteinemia, Narrow mouth ORPHA:167635
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Japanese Encephalitis
Stiff neck, Increased circulating IgM level, Elbow flexion contracture, Increased circulating ant... ORPHA:79139
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Increased circulating IgE level, Decreased T cell activation, Defective T cell... OMIM:618213
Congenital Analbuminemia
Obesity, Small for gestational age, Increased circulating antibody level ORPHA:86816
Cysticercosis
Stiff neck, Increased anti-parasite IgE antibody level, Abnormal myocardium morphology, Increased... ORPHA:1560
Igg4-Related Kidney Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449395
Tick-Borne Encephalitis
Stiff neck, Abnormal circulating cytokine concentration, Abnormal myocardium morphology, Increase... ORPHA:297
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Increased circulating IgE level, Persistence of primary teeth, Joint hypermobility, C... OMIM:147060
Lassa Fever
Increased circulating IgM level ORPHA:99824
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Increased circulating antibody level, Weight loss, Arthritis, Perica... OMIM:615846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Osteomyelitis, Cachexia, Failure to thrive in infancy ORPHA:37042
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Rift Valley Fever
Gingival bleeding, Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Primary Sjögren Syndrome
Parotitis, Reduced circulating complement concentration, Decreased circulating antibody level, In... ORPHA:289390
Primary Sclerosing Cholangitis
Osteoporosis, Osteopenia, Weight loss, Polyclonal elevation of IgM ORPHA:171
Trichinellosis
Increased circulating IgE level, Trismus ORPHA:863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Parotitis, Stiff neck, Myocarditis, Increased circulating IgG level, Increased... ORPHA:99827
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Abnormality of the sphenoid sinus, Increased circulating IgG4 le... ORPHA:449563
Marburg Hemorrhagic Fever
Pericarditis, Arthritis, Increased circulating antibody level ORPHA:99826
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Weight loss, Increased circulating antibody level ORPHA:91500
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829

Histopathology

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

There is no histopathology data for Bbx

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bbx.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bobby sox homolog regulates tooth root formation through modulation of dentin sialophosphoprotein. Journal of cellular physiology (June 2020) Bbxtm1c(EUCOMM)Wtsi Bbxtm1a(EUCOMM)Wtsi Bbxtm1d(EUCOMM)Wtsi 32537777
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)