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Gene: Tob2 MGI:1888525

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

transducer of ERBB2, 2

Synonyms:

4930545K18Rik, 2900090N22Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Tob2 mutations

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

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

Human diseases associated with Tob2 (0 diseases)
Human diseases predicted to be associated with Tob2 (394 diseases)

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

The table below shows human diseases predicted to be associated to Tob2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Acroosteolysis	Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes	OMIM:102400
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Osteoporosis	Osteoporosis	OMIM:166710
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis	OMIM:228600
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev...	ORPHA:100024
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Osteolysis, Anemia	ORPHA:158014
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:2787
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	ORPHA:50809
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Osteosarcoma	Pathologic fracture, Osteolysis	ORPHA:668
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Ollier Disease	Osteolysis, Anemia, Joint stiffness	ORPHA:296
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ...	ORPHA:2774
Ramon Syndrome	Osteolysis	ORPHA:3019
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis	OMIM:616033
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:614880
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce...	OMIM:612852
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy...	ORPHA:93160
Indolent Systemic Mastocytosis	Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast...	ORPHA:98848
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Osteolysis	ORPHA:391
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i...	ORPHA:371428
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Prieto Syndrome	Osteoporosis	OMIM:309610
Juvenile Paget Disease	Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization	ORPHA:2801
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Osteoporosis, Thrombocytopenia	OMIM:614727
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
Diabetes Insipidus, Neurohypophyseal	Osteopenia	OMIM:125700
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia	ORPHA:324964
Dermatoosteolysis, Kirghizian Type	Osteoarthritis, Tarsal synostosis, Osteolysis	ORPHA:1657
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno...	ORPHA:77259
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul...	OMIM:602080
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Felty Syndrome	Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Bone marrow...	ORPHA:47612
Infantile Myofibromatosis	Bone cyst, Osteolysis, Limitation of joint mobility	ORPHA:2591
Frank-Ter Haar Syndrome	Camptodactyly of finger, Osteolysis, Joint stiffness	ORPHA:137834
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Analbuminemia	Osteoporosis	OMIM:616000
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures	ORPHA:52430
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Osteoporosis	ORPHA:319195
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Osteoporosis	ORPHA:369
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis	OMIM:613849
Sialidosis Type 2	Splenomegaly, Flexion contracture, Osteoporosis	ORPHA:87876
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Camptodactyly of finger	ORPHA:48431
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Osteoporosis, Camptodactyly	OMIM:616006
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures	ORPHA:2788
Pseudopseudohypoparathyroidism	Osteoporosis	OMIM:612463
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab...	ORPHA:2583
Warburg Micro Syndrome 1	Osteoporosis, Joint hypermobility	OMIM:600118
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste...	ORPHA:2848
Hall-Riggs Syndrome	Osteoporosis	OMIM:234250
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo...	OMIM:614008
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex...	ORPHA:3409
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones	ORPHA:93351
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem...	OMIM:615468
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Cranioectodermal Dysplasia	Joint hyperflexibility, Osteoporosis, Craniosynostosis	ORPHA:1515
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ...	OMIM:208230
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis	OMIM:257200
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A...	ORPHA:2796
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leu...	OMIM:620210
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p...	ORPHA:90153
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density	OMIM:619489
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti...	ORPHA:793
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O...	ORPHA:249
Cerebrooculofacioskeletal Syndrome 1	Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:214150
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Mandibuloacral Dysplasia With Type B Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)...	ORPHA:90154
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Mixed Connective Tissue Disease	Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis	ORPHA:809
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th...	OMIM:259100
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Reduced bone mineral density	ORPHA:172
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Propionic Acidemia	Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Menkes Disease	Joint laxity, Osteoporosis	OMIM:309400
Classic Galactosemia	Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density	ORPHA:79239
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Rhyns Syndrome	Osteopenia, Osteoporosis	OMIM:602152
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia...	OMIM:613989
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Peroxisome Biogenesis Disorder 3B	Osteoporosis	OMIM:266510
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of...	OMIM:263700
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Osteolysis	ORPHA:678
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
H Syndrome	Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodactyly, Histiocytosis	ORPHA:168569
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Geroderma Osteodysplastica	Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification	ORPHA:2078
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Joint contracture, Osteoporosis	OMIM:615381
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density	OMIM:619795
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis	OMIM:619718
Kaposiform Lymphangiomatosis	Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal splee...	ORPHA:464329
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ...	OMIM:259420
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis...	OMIM:612301
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Odontochondrodysplasia 1	Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility	OMIM:184260
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Nasu-Hakola Disease	Bone cyst, Acute leukemia, Limitation of joint mobility, Reduced bone mineral density	ORPHA:2770
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Osteoporosis, Generalized osteoporosis	OMIM:236200
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	OMIM:616507
Hemochromatosis, Type 1	Splenomegaly, Osteoporosis	OMIM:235200
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:785
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Osteoporosis of vertebrae	OMIM:156510
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis	OMIM:239000
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Osteoporosis	OMIM:616200
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi...	OMIM:618000
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Cantu Syndrome	Osteoporosis	OMIM:239850
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia	ORPHA:95159
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto...	OMIM:613990
Pseudohypoparathyroidism, Type Ia	Subcutaneous ossification, Osteoporosis	OMIM:103580
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density	OMIM:620232
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Shoulder flexion contracture, Osteoporosis, Joint contracture of the hand, Wrist...	OMIM:255800
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Familial Dysautonomia	Recurrent fractures, Osteolysis	ORPHA:1764
Gaucher Disease	Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi...	ORPHA:355
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis	OMIM:615851
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:261476
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia	ORPHA:35687
Desbuquois Dysplasia 1	Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa...	OMIM:251450
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys...	ORPHA:79277
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter...	ORPHA:93284
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B...	OMIM:127550
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ...	ORPHA:309282
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Osteoporosis	ORPHA:73272
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture	OMIM:614438
Pseudohypoparathyroidism, Type Ic	Osteoporosis	OMIM:612462
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Hajdu-Cheney Syndrome	Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ...	ORPHA:955
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Lowry-Maclean Syndrome	Osteopenia, Osteoporosis, Craniosynostosis	ORPHA:2409
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis, Decreased circu...	OMIM:212750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Osteoporosis, Lambdoidal craniosynostosis	OMIM:615398
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis	OMIM:617190
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density...	ORPHA:94068
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o...	ORPHA:198
Incontinentia Pigmenti	Eosinophilia, Spina bifida occulta, Camptodactyly of finger, Osteolysis	ORPHA:464
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures	OMIM:620351
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis	ORPHA:91348
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis	ORPHA:2396
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Splenomegaly, Flexion contracture, Osteoporosis, Decreased circulating IgA level	OMIM:613327
Cryptococcosis	Lymphoid leukemia, Osteolysis, Osteomyelitis	ORPHA:1546
Chikungunya	Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal...	ORPHA:324625
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Stiff interphalangeal joints	ORPHA:465508
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly	ORPHA:432
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Anemia	ORPHA:3042
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Arthritis, Increased...	ORPHA:228123
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Bone marrow hypocellular...	OMIM:612199
Singleton-Merten Syndrome 2	Osteopenia, Osteolytic defects of the phalanges of the hand	OMIM:616298
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification	OMIM:226980
Progressive Pseudorheumatoid Arthropathy Of Childhood	Limitation of joint mobility, Abnormality of hand joint mobility, Camptodactyly, Joint contractur...	ORPHA:1159
Macs Syndrome	Joint laxity, Osteoporosis, Joint hypermobility	OMIM:613075
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Brittle Cornea Syndrome	Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures	ORPHA:90354
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility	ORPHA:363705
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis	OMIM:219090
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I...	ORPHA:2909
Lysinuric Protein Intolerance	Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt...	OMIM:222700
X Small Rings	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:96201
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop...	ORPHA:2959
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Flexion contracture, Progressive clavicular acroosteol...	OMIM:608612
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Werner Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Mucopolysaccharidosis, Type Ivb	Joint laxity, Osteoporosis, Joint stiffness	OMIM:253010
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Farber Disease	Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Thrombocytopenia	ORPHA:333
Adrenomyodystrophy	Reduced bone mineral density	ORPHA:977
Mucopolysaccharidosis, Type Iva	Joint laxity, Osteoporosis	OMIM:253000
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Joint stiffness, Flexion contracture, Elbow flexion contracture, Progressive clavicul...	OMIM:248370
Glycogen Storage Disease Ib	Splenomegaly, Osteoporosis, Gout, Neutropenia	OMIM:232220
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Osteoporosis, Elbow flexi...	OMIM:245600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Osteolysis	ORPHA:1052
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Chime Syndrome	Osteolysis, Acute leukemia	ORPHA:3474
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur...	ORPHA:1900
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:91
Cleidocranial Dysplasia	Decreased skull ossification, Spina bifida occulta, Osteoporosis, Recurrent fractures	ORPHA:1452
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Osteoporosis, Anemia	ORPHA:79240
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis	OMIM:300998
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Anemia	ORPHA:264580
Cantú Syndrome	Osteoporosis	ORPHA:1517
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Osteoporosis, Anemia, Hepatosplenomegaly	OMIM:619487
Primary Biliary Cholangitis	Increased circulating IgM level, Osteoporosis, Increased circulating IgA level	ORPHA:186
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
Premature Aging Syndrome, Penttinen Type	Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ...	OMIM:601812
Glycogen Storage Disease Ia	Osteoporosis, Gout	OMIM:232200
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi...	ORPHA:221016
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis	ORPHA:398079
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract...	OMIM:166220
Zygomycosis	Brain abscess, Splenic abscess, Osteolysis, Neutropenia	ORPHA:73263
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Neutropen...	ORPHA:221008
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Bo...	ORPHA:1775
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr...	OMIM:102500
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:601559
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis	ORPHA:398069
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad...	ORPHA:536467
Classic Homocystinuria	Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:394
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Glass Syndrome	Generalized osteoporosis, Camptodactyly	OMIM:612313
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc...	ORPHA:171
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity	OMIM:249420
Lysinuric Protein Intolerance	Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Decreased circulating antibody le...	ORPHA:470
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis	ORPHA:2232
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis	OMIM:307030
Prader-Willi Syndrome	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:739
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis	ORPHA:98754
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ...	OMIM:277900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis	ORPHA:177904
Prader-Willi Syndrome	Osteopenia, Osteoporosis	OMIM:176270
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis	ORPHA:177901
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Chronic neutropenia, Osteoporosis, Gout, Increased susceptibility to fractures, Abnor...	ORPHA:79259
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density	ORPHA:652
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones	ORPHA:97685
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ...	ORPHA:800
Tbck-Related Intellectual Disability Syndrome	Osteoporosis	ORPHA:488632
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Osteoporosis, Joint laxity	OMIM:225400
Menkes Disease	Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility	ORPHA:565
Occipital Horn Syndrome	Joint laxity, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Limited elbow extension	OMIM:304150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis...	OMIM:271640
Hypermobile Ehlers-Danlos Syndrome	Joint hyperflexibility, Osteoarthritis, Limitation of joint mobility, Osteolysis	ORPHA:285
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Pathologic fr...	ORPHA:77293
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:168558
X-Linked Intellectual Disability, Snyder Type	Osteoporosis, Recurrent fractures, Camptodactyly	ORPHA:3063
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:289548
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis	ORPHA:254892
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali...	ORPHA:536471
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari...	OMIM:305000
Rothmund-Thomson Syndrome, Type 2	Osteoporosis	OMIM:268400
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Osteoporosis, Joint hypermobility	ORPHA:536545
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:90796
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis...	ORPHA:666
Cystic Fibrosis	Osteopenia, Osteoporosis	ORPHA:586
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Osteoporosis	OMIM:203700
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility	ORPHA:558
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi...	ORPHA:79474
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:909
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis	ORPHA:99880
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis	ORPHA:96253
Parathyroid Carcinoma	Osteoporosis	ORPHA:143
Cranioectodermal Dysplasia 1	Joint laxity, Osteoporosis, Sagittal craniosynostosis	OMIM:218330
Cockayne Syndrome B	Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the...	OMIM:133540
Congenital Disorder Of Deglycosylation 1	Osteoporosis	OMIM:615273
Dpagt1-Cdg	Flexion contracture, Osteoporosis, Anemia, Camptodactyly	ORPHA:86309
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis	ORPHA:365
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis	ORPHA:91347
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, An...	ORPHA:79408
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Knee flexion contracture	OMIM:210730
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno...	ORPHA:284984
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia	OMIM:619525
Wolf-Hirschhorn Syndrome	Osteoporosis	ORPHA:280
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Thrombocytopenia	OMIM:301068
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lower-limb joint contracture, Osteoporosis	ORPHA:459070
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Severe Generalized Junctional Epidermolysis Bullosa	Osteoporosis, Anemia	ORPHA:79404
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand	OMIM:610168
Pseudoaminopterin Syndrome	Limited elbow movement, Sagittal craniosynostosis, Asplenia, Patchy reduction of bone mineral den...	ORPHA:221120
Vascular Ehlers-Danlos Syndrome	Joint hyperflexibility, Osteoarthritis, Osteolysis	ORPHA:286
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita...	ORPHA:740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Osteoporosis, Anemia	ORPHA:438213
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:99413
Turner Syndrome	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:881
Mosaic Monosomy X	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:99228
Monosomy X	Osteopenia, Osteoporosis, Reduced bone mineral density	ORPHA:99226
Singleton-Merten Syndrome 1	Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand	OMIM:182250
Primrose Syndrome	Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Reduced bone mineral den...	OMIM:259050
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy...	ORPHA:904
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis	ORPHA:99889
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Flexion contracture, Osteoporosis, Radioulnar synostosis	OMIM:194050
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Osteoporosis, Impaired neutrophil chemotaxis	ORPHA:79318

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 Tob2

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 Tob2.

No publications found that use IMPC mice or data for Tob2.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Tob2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tob2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tob2^{em1(IMPC)Ccpcz}	Whole-gene deletion	Mice
Tob2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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